ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_12700
|
A variant affecting Chromosome 9, within the gene CDKN2A (cyclin dependent kinase inhibitor 2A), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Melanoma-pancreatic cancer syndrome
|
ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCAGTAGAATCTAACCATATAATTAATTGTGCTTGAAGAGGGGGTGTTGGGGAGTAAGAGAAGGAAGGGAGGAGGGAAGAAATGAAAGACTTGTGTGTTTGGATTAAATATATTAGGTTTGGTTAAGAGTCGTTCAGTTTATTCATTTGCTTGTGGCCCAATTCAGTAGTTTTACTCCCTCTCCCACTTGGCTCCTCAGGCTTTTTGCTCAGCCCTGGAACCGCGCTGTAATTGGCAGCTCCTTCTAAATCGGGACCCGGATGCTAGCTGTAACTGGAGCCGAAGTCTCCTTCTTCACCTCCCGGGACCTGGATGCTAGCTGTAACTGGAGGGAATTGGCGGGGGGGAGGGGAGGAGGGGCCGAGTAAAGAAGAACTTCGCGTCTTTAACTTCGAAGGTGATTTTGCGTTCTGTATTTACAGCATCTCCAAGCAGAGGGCTTAGAGCTAACTCTTCACCCTGTCCTCCCCAGCTCCCCTATGGCCCAAGGAGCCCAATGCCCCCGTTCTGGGCCAAAATAAGATGGATTTCATAATCTTCAAGGTCATGTTTTACCTTAAATATTCGTGTTAATTCCCGTGTACTGTTTCATATATCTATTTTGTTTCAAAAAAAAATGTTCCTCCCCCCAGAAACAATTGAGTAATGTTGGCAGTTTCAGCAGACAGCTGTGGGAGTAGGGAACTGGGGCCATGGAATGGGGGCGGAGGGAGGATGCTTTGAGATCACAAAAAGGAAAGGCAAGGGCAAGGAGGACCATAATTCTACCTTCATCGCTCAGCGATCTCTTGCACAAGTTTAAGAGGGAAAGGAGCCAACTCCGGTGCACAGACTGCCAGGGTCAGCGAAGTCTTGGTCCTGATGTCCCCAGAACCCCCTGGGGCAGCTCTGGAAAACTCTACCGCATAAAGCGGAGGGTCAGATTAGCTGAGGAGGGTCAGATTAGTTGAGTTGTGCAGAAGAGCCGAGATCGAGAGATCTCCAGATGATGCCACGCACAATTGGGTTTGGAAATCCTGAGGTTGGTCCAGCCAGCTTGGTATGCAAATGAGGAAACAGACCTGGTAAGTGGATGCAACTGGCCCTAGTTTGGAGGAAGAGGGGGCACTAGACCTCTAGCCTCTTGAGTCTTCATTGCTCCGCAGTCTAGGCCTTGAACTAGCAGAGGGTAGGTGTTTGGGTGGTGGTATGCTTTGGGAAGTATAATGTACAAAATGGGCTTTCACGTGCGCAAGTCCATTTCGGGATTATTTCCCATTTGCCGCCCTGGCGGGGCAGGGCGATAGGGAGACTCAGGCCGTCCCACCGATTGGCGCGTGAGCTGAGGCAAGACCGGAGACTGGTCTCCCGGGCTGAACTTTCTGTGCTGGAAAATGAATGCTCTGAGCTTTGGAAGCTCTCAGGGTACAAATTCTCAGATCATCAGTCCTCACCTGAGGGACCTTCCGCGGCATCTATGCGGGCATGGTTACTGCCTCTGGTGCCCCCCGCAGCCGCGCGCAGGTACCGTGCGACATCGCGATGGCCCAGCTCCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAGCACCACCAGCGTGTCCAGGAAGCCCTCCCGGGCAGCGTCGTGCACGGGTCGGGTGAGAGTGGCGGGGTCGGCGCAGTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCCATCATCATGACCTGCCAGAGAGAACAGAATGGTCAGAGCCAGGGTGGGGGCCGGCATGACGGAAAGGAAGCTTGTGTAGAGCCCCCTCACCGCCAAGCAGACCCCCACACAAGCCCCAGGTGTCTAATTACCCCTACATTTGCTTCCAGTTTCCAATTTCCTTCTTGAGTTCTCTATCCATTCTTCAGTACACAATGAATTCCATTATATCCTCCGAACTTCTGCGGAGCTGTCGTCACAGGCAGAGAGCACTGTGAGGCACGGGCAAAATAGCAAAGGGGCAGGGACAGACTGACTTTTACTCCAGGCTAACTTCCTGTATTTCCCCTGAGATACAACTACTGAAATTTCTTCCTGAAATTATGTTAGGCCTGGAGATTTTTTTTTTTTTTTTTGTTCACTGCTGTATATCCAAGCGCAGAATGTGGTAATTGTTAAAAAGAGAAAACTTGTTTGTTTGTTAAAACAAATTCTCACAAAACTTTTAAGTTACACTTAGCTTCTGGGAATGTTGAACTTCAATTTCTTTTTCATTATATTAGTTTTAAAATTATATATTGGGATAGTACAGTTGTATATATTTATGTGGTACAATATGAAGTTATGATCTTTGAACACAATGGGGAATTATTAAGTCAAGCTAAGTAACCTATCCATCATCTCAAATATTTGACATTTTTGTCAAATGAGAGCATTTGGGATTTACTATTTAGCTATATTCATCATGCTATGAAACACATCTCAAAAAAAACAATCAAACTTATTCCTCCCATCTTAACTGAGGCTTTATATCTTGATTACCATCTCCCCATTCCTCCCACCCCCCAGCTCTAGTAACCACCATTCTACTCTTTACTGCTAAGAATGTAATTGTTTTATATTTCACAGATAAGTGAGAACATGTGATATTTGTCTTTCTGTGTTTGGCTTATTTCATTTAGCATAATGCTCTCCAATTCCAAAACTTCAATTTCTTCAAGTATAAAATAAGAAGGCTAGTTTAATTAACCCTAAAATTCCTTCCTGTGGTAGGCTGAATAATGCCCCCCCACCCCCAATGTCTATGTCCTAATCCTCAAAAACTTTTAATACATTAACTTATGTGGCAAAAGAGGCTTTGCAGATGTGATTTAATTAATGGTCTTGAGGGAGATTATCCAGAATTTTCAGGGTGGGCCCAACATAACCCCAAGTGTTTTTATTAGAGGGTCACAGTCAGAGAGAAGATACAAGAATGGAAGCACAGGCCACAGAGAAAATACAGAGACCATGAGCCAAGGAATTTGATGGTCACTAGAAGCTGGAAAAGACAAGGAAACAGATTGCCCCTTAGAGTTTCCAAAAGGAATGAAACCTTGTGGACCCATTTTTGACTTCTGATCTCTAGAACTGTAAAATAATAATTTTGTGTTTGTTTTAGCTAACACATTTGTGATAATTTGTAACAGCAGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAGAAAGACAAAATGTTGCAGTATATTTATTGTTTTGTGTATTCAATGAAGTCCTTCGTCTTGGTCATAAAACTAGCCTTAAAGGTTTTTCTTATATTTCATAGTATGAAAAATCTAAAAAGTAACCCATATGTAAATATTTAAATCATGATAGAAATCCAAAGCAAAAAGAAAATGAATCAAT
|
ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCAGTAGAATCTAACCATATAATTAATTGTGCTTGAAGAGGGGGTGTTGGGGAGTAAGAGAAGGAAGGGAGGAGGGAAGAAATGAAAGACTTGTGTGTTTGGATTAAATATATTAGGTTTGGTTAAGAGTCGTTCAGTTTATTCATTTGCTTGTGGCCCAATTCAGTAGTTTTACTCCCTCTCCCACTTGGCTCCTCAGGCTTTTTGCTCAGCCCTGGAACCGCGCTGTAATTGGCAGCTCCTTCTAAATCGGGACCCGGATGCTAGCTGTAACTGGAGCCGAAGTCTCCTTCTTCACCTCCCGGGACCTGGATGCTAGCTGTAACTGGAGGGAATTGGCGGGGGGGAGGGGAGGAGGGGCCGAGTAAAGAAGAACTTCGCGTCTTTAACTTCGAAGGTGATTTTGCGTTCTGTATTTACAGCATCTCCAAGCAGAGGGCTTAGAGCTAACTCTTCACCCTGTCCTCCCCAGCTCCCCTATGGCCCAAGGAGCCCAATGCCCCCGTTCTGGGCCAAAATAAGATGGATTTCATAATCTTCAAGGTCATGTTTTACCTTAAATATTCGTGTTAATTCCCGTGTACTGTTTCATATATCTATTTTGTTTCAAAAAAAAATGTTCCTCCCCCCAGAAACAATTGAGTAATGTTGGCAGTTTCAGCAGACAGCTGTGGGAGTAGGGAACTGGGGCCATGGAATGGGGGCGGAGGGAGGATGCTTTGAGATCACAAAAAGGAAAGGCAAGGGCAAGGAGGACCATAATTCTACCTTCATCGCTCAGCGATCTCTTGCACAAGTTTAAGAGGGAAAGGAGCCAACTCCGGTGCACAGACTGCCAGGGTCAGCGAAGTCTTGGTCCTGATGTCCCCAGAACCCCCTGGGGCAGCTCTGGAAAACTCTACCGCATAAAGCGGAGGGTCAGATTAGCTGAGGAGGGTCAGATTAGTTGAGTTGTGCAGAAGAGCCGAGATCGAGAGATCTCCAGATGATGCCACGCACAATTGGGTTTGGAAATCCTGAGGTTGGTCCAGCCAGCTTGGTATGCAAATGAGGAAACAGACCTGGTAAGTGGATGCAACTGGCCCTAGTTTGGAGGAAGAGGGGGCACTAGACCTCTAGCCTCTTGAGTCTTCATTGCTCCGCAGTCTAGGCCTTGAACTAGCAGAGGGTAGGTGTTTGGGTGGTGGTATGCTTTGGGAAGTATAATGTACAAAATGGGCTTTCACGTGCGCAAGTCCATTTCGGGATTATTTCCCATTTGCCGCCCTGGCGGGGCAGGGCGATAGGGAGACTCAGGCCGTCCCACCGATTGGCGCGTGAGCTGAGGCAAGACCGGAGACTGGTCTCCCGGGCTGAACTTTCTGTGCTGGAAAATGAATGCTCTGAGCTTTGGAAGCTCTCAGGGTACAAATTCTCAGATCATCAGTCCTCACCTGAGGGACCTTCCGCGGCATCTATGCGGGCATGGTTACTGCCTCTGGTGCCCCCCGCAGCCGCGCGCAGGTACCGTGCGACATCGCGATGGCCCAGCTCCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAGCACCACCAGCGTGTCCAGGAAGCCCTCCCGGGCAGCGTCGTGCACGGGTCGGGTGAGAGTGGCGGGGTCGGCGCAGTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCCATGATCATGACCTGCCAGAGAGAACAGAATGGTCAGAGCCAGGGTGGGGGCCGGCATGACGGAAAGGAAGCTTGTGTAGAGCCCCCTCACCGCCAAGCAGACCCCCACACAAGCCCCAGGTGTCTAATTACCCCTACATTTGCTTCCAGTTTCCAATTTCCTTCTTGAGTTCTCTATCCATTCTTCAGTACACAATGAATTCCATTATATCCTCCGAACTTCTGCGGAGCTGTCGTCACAGGCAGAGAGCACTGTGAGGCACGGGCAAAATAGCAAAGGGGCAGGGACAGACTGACTTTTACTCCAGGCTAACTTCCTGTATTTCCCCTGAGATACAACTACTGAAATTTCTTCCTGAAATTATGTTAGGCCTGGAGATTTTTTTTTTTTTTTTTGTTCACTGCTGTATATCCAAGCGCAGAATGTGGTAATTGTTAAAAAGAGAAAACTTGTTTGTTTGTTAAAACAAATTCTCACAAAACTTTTAAGTTACACTTAGCTTCTGGGAATGTTGAACTTCAATTTCTTTTTCATTATATTAGTTTTAAAATTATATATTGGGATAGTACAGTTGTATATATTTATGTGGTACAATATGAAGTTATGATCTTTGAACACAATGGGGAATTATTAAGTCAAGCTAAGTAACCTATCCATCATCTCAAATATTTGACATTTTTGTCAAATGAGAGCATTTGGGATTTACTATTTAGCTATATTCATCATGCTATGAAACACATCTCAAAAAAAACAATCAAACTTATTCCTCCCATCTTAACTGAGGCTTTATATCTTGATTACCATCTCCCCATTCCTCCCACCCCCCAGCTCTAGTAACCACCATTCTACTCTTTACTGCTAAGAATGTAATTGTTTTATATTTCACAGATAAGTGAGAACATGTGATATTTGTCTTTCTGTGTTTGGCTTATTTCATTTAGCATAATGCTCTCCAATTCCAAAACTTCAATTTCTTCAAGTATAAAATAAGAAGGCTAGTTTAATTAACCCTAAAATTCCTTCCTGTGGTAGGCTGAATAATGCCCCCCCACCCCCAATGTCTATGTCCTAATCCTCAAAAACTTTTAATACATTAACTTATGTGGCAAAAGAGGCTTTGCAGATGTGATTTAATTAATGGTCTTGAGGGAGATTATCCAGAATTTTCAGGGTGGGCCCAACATAACCCCAAGTGTTTTTATTAGAGGGTCACAGTCAGAGAGAAGATACAAGAATGGAAGCACAGGCCACAGAGAAAATACAGAGACCATGAGCCAAGGAATTTGATGGTCACTAGAAGCTGGAAAAGACAAGGAAACAGATTGCCCCTTAGAGTTTCCAAAAGGAATGAAACCTTGTGGACCCATTTTTGACTTCTGATCTCTAGAACTGTAAAATAATAATTTTGTGTTTGTTTTAGCTAACACATTTGTGATAATTTGTAACAGCAGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAGAAAGACAAAATGTTGCAGTATATTTATTGTTTTGTGTATTCAATGAAGTCCTTCGTCTTGGTCATAAAACTAGCCTTAAAGGTTTTTCTTATATTTCATAGTATGAAAAATCTAAAAAGTAACCCATATGTAAATATTTAAATCATGATAGAAATCCAAAGCAAAAAGAAAATGAATCAAT
|
Task1_train_12701
|
A mutation on Chromosome 9 affecting CDKN2A (cyclin dependent kinase inhibitor 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Melanoma and neural system tumor syndrome
|
ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCAGTAGAATCTAACCATATAATTAATTGTGCTTGAAGAGGGGGTGTTGGGGAGTAAGAGAAGGAAGGGAGGAGGGAAGAAATGAAAGACTTGTGTGTTTGGATTAAATATATTAGGTTTGGTTAAGAGTCGTTCAGTTTATTCATTTGCTTGTGGCCCAATTCAGTAGTTTTACTCCCTCTCCCACTTGGCTCCTCAGGCTTTTTGCTCAGCCCTGGAACCGCGCTGTAATTGGCAGCTCCTTCTAAATCGGGACCCGGATGCTAGCTGTAACTGGAGCCGAAGTCTCCTTCTTCACCTCCCGGGACCTGGATGCTAGCTGTAACTGGAGGGAATTGGCGGGGGGGAGGGGAGGAGGGGCCGAGTAAAGAAGAACTTCGCGTCTTTAACTTCGAAGGTGATTTTGCGTTCTGTATTTACAGCATCTCCAAGCAGAGGGCTTAGAGCTAACTCTTCACCCTGTCCTCCCCAGCTCCCCTATGGCCCAAGGAGCCCAATGCCCCCGTTCTGGGCCAAAATAAGATGGATTTCATAATCTTCAAGGTCATGTTTTACCTTAAATATTCGTGTTAATTCCCGTGTACTGTTTCATATATCTATTTTGTTTCAAAAAAAAATGTTCCTCCCCCCAGAAACAATTGAGTAATGTTGGCAGTTTCAGCAGACAGCTGTGGGAGTAGGGAACTGGGGCCATGGAATGGGGGCGGAGGGAGGATGCTTTGAGATCACAAAAAGGAAAGGCAAGGGCAAGGAGGACCATAATTCTACCTTCATCGCTCAGCGATCTCTTGCACAAGTTTAAGAGGGAAAGGAGCCAACTCCGGTGCACAGACTGCCAGGGTCAGCGAAGTCTTGGTCCTGATGTCCCCAGAACCCCCTGGGGCAGCTCTGGAAAACTCTACCGCATAAAGCGGAGGGTCAGATTAGCTGAGGAGGGTCAGATTAGTTGAGTTGTGCAGAAGAGCCGAGATCGAGAGATCTCCAGATGATGCCACGCACAATTGGGTTTGGAAATCCTGAGGTTGGTCCAGCCAGCTTGGTATGCAAATGAGGAAACAGACCTGGTAAGTGGATGCAACTGGCCCTAGTTTGGAGGAAGAGGGGGCACTAGACCTCTAGCCTCTTGAGTCTTCATTGCTCCGCAGTCTAGGCCTTGAACTAGCAGAGGGTAGGTGTTTGGGTGGTGGTATGCTTTGGGAAGTATAATGTACAAAATGGGCTTTCACGTGCGCAAGTCCATTTCGGGATTATTTCCCATTTGCCGCCCTGGCGGGGCAGGGCGATAGGGAGACTCAGGCCGTCCCACCGATTGGCGCGTGAGCTGAGGCAAGACCGGAGACTGGTCTCCCGGGCTGAACTTTCTGTGCTGGAAAATGAATGCTCTGAGCTTTGGAAGCTCTCAGGGTACAAATTCTCAGATCATCAGTCCTCACCTGAGGGACCTTCCGCGGCATCTATGCGGGCATGGTTACTGCCTCTGGTGCCCCCCGCAGCCGCGCGCAGGTACCGTGCGACATCGCGATGGCCCAGCTCCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAGCACCACCAGCGTGTCCAGGAAGCCCTCCCGGGCAGCGTCGTGCACGGGTCGGGTGAGAGTGGCGGGGTCGGCGCAGTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCCATCATCATGACCTGCCAGAGAGAACAGAATGGTCAGAGCCAGGGTGGGGGCCGGCATGACGGAAAGGAAGCTTGTGTAGAGCCCCCTCACCGCCAAGCAGACCCCCACACAAGCCCCAGGTGTCTAATTACCCCTACATTTGCTTCCAGTTTCCAATTTCCTTCTTGAGTTCTCTATCCATTCTTCAGTACACAATGAATTCCATTATATCCTCCGAACTTCTGCGGAGCTGTCGTCACAGGCAGAGAGCACTGTGAGGCACGGGCAAAATAGCAAAGGGGCAGGGACAGACTGACTTTTACTCCAGGCTAACTTCCTGTATTTCCCCTGAGATACAACTACTGAAATTTCTTCCTGAAATTATGTTAGGCCTGGAGATTTTTTTTTTTTTTTTTGTTCACTGCTGTATATCCAAGCGCAGAATGTGGTAATTGTTAAAAAGAGAAAACTTGTTTGTTTGTTAAAACAAATTCTCACAAAACTTTTAAGTTACACTTAGCTTCTGGGAATGTTGAACTTCAATTTCTTTTTCATTATATTAGTTTTAAAATTATATATTGGGATAGTACAGTTGTATATATTTATGTGGTACAATATGAAGTTATGATCTTTGAACACAATGGGGAATTATTAAGTCAAGCTAAGTAACCTATCCATCATCTCAAATATTTGACATTTTTGTCAAATGAGAGCATTTGGGATTTACTATTTAGCTATATTCATCATGCTATGAAACACATCTCAAAAAAAACAATCAAACTTATTCCTCCCATCTTAACTGAGGCTTTATATCTTGATTACCATCTCCCCATTCCTCCCACCCCCCAGCTCTAGTAACCACCATTCTACTCTTTACTGCTAAGAATGTAATTGTTTTATATTTCACAGATAAGTGAGAACATGTGATATTTGTCTTTCTGTGTTTGGCTTATTTCATTTAGCATAATGCTCTCCAATTCCAAAACTTCAATTTCTTCAAGTATAAAATAAGAAGGCTAGTTTAATTAACCCTAAAATTCCTTCCTGTGGTAGGCTGAATAATGCCCCCCCACCCCCAATGTCTATGTCCTAATCCTCAAAAACTTTTAATACATTAACTTATGTGGCAAAAGAGGCTTTGCAGATGTGATTTAATTAATGGTCTTGAGGGAGATTATCCAGAATTTTCAGGGTGGGCCCAACATAACCCCAAGTGTTTTTATTAGAGGGTCACAGTCAGAGAGAAGATACAAGAATGGAAGCACAGGCCACAGAGAAAATACAGAGACCATGAGCCAAGGAATTTGATGGTCACTAGAAGCTGGAAAAGACAAGGAAACAGATTGCCCCTTAGAGTTTCCAAAAGGAATGAAACCTTGTGGACCCATTTTTGACTTCTGATCTCTAGAACTGTAAAATAATAATTTTGTGTTTGTTTTAGCTAACACATTTGTGATAATTTGTAACAGCAGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAGAAAGACAAAATGTTGCAGTATATTTATTGTTTTGTGTATTCAATGAAGTCCTTCGTCTTGGTCATAAAACTAGCCTTAAAGGTTTTTCTTATATTTCATAGTATGAAAAATCTAAAAAGTAACCCATATGTAAATATTTAAATCATGATAGAAATCCAAAGCAAAAAGAAAATGAATCAAT
|
ATCCCAGTACTTTAGGAGGAGGAGGGGGGATGATCGCTTGAGCCCAGATAACATGGTGAGACCTTCGTCTCTATTAAACAAACAAACAAACCCAGGCGTCGTGGCGTGCACCTGTGGTCCCAGCTAGTCGGGAGGCTCAGGTGGGAGAACCCCTTGAGCCAGGGAGTTTGAGGCTGCAGTGAGCTGTGATCGCGCCACTGCACTCCAGGTTGGGCAACAGATCGACTCTGTCTCCAAATGTAAACCCCATGAGGGCAAGACTCTTGTTTGGTCTCATTCACCTTGGCGTGCCCACCACCTAGAACAGGGCTGATCACGCAGTAGAATCTAACCATATAATTAATTGTGCTTGAAGAGGGGGTGTTGGGGAGTAAGAGAAGGAAGGGAGGAGGGAAGAAATGAAAGACTTGTGTGTTTGGATTAAATATATTAGGTTTGGTTAAGAGTCGTTCAGTTTATTCATTTGCTTGTGGCCCAATTCAGTAGTTTTACTCCCTCTCCCACTTGGCTCCTCAGGCTTTTTGCTCAGCCCTGGAACCGCGCTGTAATTGGCAGCTCCTTCTAAATCGGGACCCGGATGCTAGCTGTAACTGGAGCCGAAGTCTCCTTCTTCACCTCCCGGGACCTGGATGCTAGCTGTAACTGGAGGGAATTGGCGGGGGGGAGGGGAGGAGGGGCCGAGTAAAGAAGAACTTCGCGTCTTTAACTTCGAAGGTGATTTTGCGTTCTGTATTTACAGCATCTCCAAGCAGAGGGCTTAGAGCTAACTCTTCACCCTGTCCTCCCCAGCTCCCCTATGGCCCAAGGAGCCCAATGCCCCCGTTCTGGGCCAAAATAAGATGGATTTCATAATCTTCAAGGTCATGTTTTACCTTAAATATTCGTGTTAATTCCCGTGTACTGTTTCATATATCTATTTTGTTTCAAAAAAAAATGTTCCTCCCCCCAGAAACAATTGAGTAATGTTGGCAGTTTCAGCAGACAGCTGTGGGAGTAGGGAACTGGGGCCATGGAATGGGGGCGGAGGGAGGATGCTTTGAGATCACAAAAAGGAAAGGCAAGGGCAAGGAGGACCATAATTCTACCTTCATCGCTCAGCGATCTCTTGCACAAGTTTAAGAGGGAAAGGAGCCAACTCCGGTGCACAGACTGCCAGGGTCAGCGAAGTCTTGGTCCTGATGTCCCCAGAACCCCCTGGGGCAGCTCTGGAAAACTCTACCGCATAAAGCGGAGGGTCAGATTAGCTGAGGAGGGTCAGATTAGTTGAGTTGTGCAGAAGAGCCGAGATCGAGAGATCTCCAGATGATGCCACGCACAATTGGGTTTGGAAATCCTGAGGTTGGTCCAGCCAGCTTGGTATGCAAATGAGGAAACAGACCTGGTAAGTGGATGCAACTGGCCCTAGTTTGGAGGAAGAGGGGGCACTAGACCTCTAGCCTCTTGAGTCTTCATTGCTCCGCAGTCTAGGCCTTGAACTAGCAGAGGGTAGGTGTTTGGGTGGTGGTATGCTTTGGGAAGTATAATGTACAAAATGGGCTTTCACGTGCGCAAGTCCATTTCGGGATTATTTCCCATTTGCCGCCCTGGCGGGGCAGGGCGATAGGGAGACTCAGGCCGTCCCACCGATTGGCGCGTGAGCTGAGGCAAGACCGGAGACTGGTCTCCCGGGCTGAACTTTCTGTGCTGGAAAATGAATGCTCTGAGCTTTGGAAGCTCTCAGGGTACAAATTCTCAGATCATCAGTCCTCACCTGAGGGACCTTCCGCGGCATCTATGCGGGCATGGTTACTGCCTCTGGTGCCCCCCGCAGCCGCGCGCAGGTACCGTGCGACATCGCGATGGCCCAGCTCCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATCGCGCACGTCCAGCCGCGCCCCGGCCCGGTGCAGCACCACCAGCGTGTCCAGGAAGCCCTCCCGGGCAGCGTCGTGCACGGGTCGGGTGAGAGTGGCGGGGTCGGCGCAGTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCCATGATCATGACCTGCCAGAGAGAACAGAATGGTCAGAGCCAGGGTGGGGGCCGGCATGACGGAAAGGAAGCTTGTGTAGAGCCCCCTCACCGCCAAGCAGACCCCCACACAAGCCCCAGGTGTCTAATTACCCCTACATTTGCTTCCAGTTTCCAATTTCCTTCTTGAGTTCTCTATCCATTCTTCAGTACACAATGAATTCCATTATATCCTCCGAACTTCTGCGGAGCTGTCGTCACAGGCAGAGAGCACTGTGAGGCACGGGCAAAATAGCAAAGGGGCAGGGACAGACTGACTTTTACTCCAGGCTAACTTCCTGTATTTCCCCTGAGATACAACTACTGAAATTTCTTCCTGAAATTATGTTAGGCCTGGAGATTTTTTTTTTTTTTTTTGTTCACTGCTGTATATCCAAGCGCAGAATGTGGTAATTGTTAAAAAGAGAAAACTTGTTTGTTTGTTAAAACAAATTCTCACAAAACTTTTAAGTTACACTTAGCTTCTGGGAATGTTGAACTTCAATTTCTTTTTCATTATATTAGTTTTAAAATTATATATTGGGATAGTACAGTTGTATATATTTATGTGGTACAATATGAAGTTATGATCTTTGAACACAATGGGGAATTATTAAGTCAAGCTAAGTAACCTATCCATCATCTCAAATATTTGACATTTTTGTCAAATGAGAGCATTTGGGATTTACTATTTAGCTATATTCATCATGCTATGAAACACATCTCAAAAAAAACAATCAAACTTATTCCTCCCATCTTAACTGAGGCTTTATATCTTGATTACCATCTCCCCATTCCTCCCACCCCCCAGCTCTAGTAACCACCATTCTACTCTTTACTGCTAAGAATGTAATTGTTTTATATTTCACAGATAAGTGAGAACATGTGATATTTGTCTTTCTGTGTTTGGCTTATTTCATTTAGCATAATGCTCTCCAATTCCAAAACTTCAATTTCTTCAAGTATAAAATAAGAAGGCTAGTTTAATTAACCCTAAAATTCCTTCCTGTGGTAGGCTGAATAATGCCCCCCCACCCCCAATGTCTATGTCCTAATCCTCAAAAACTTTTAATACATTAACTTATGTGGCAAAAGAGGCTTTGCAGATGTGATTTAATTAATGGTCTTGAGGGAGATTATCCAGAATTTTCAGGGTGGGCCCAACATAACCCCAAGTGTTTTTATTAGAGGGTCACAGTCAGAGAGAAGATACAAGAATGGAAGCACAGGCCACAGAGAAAATACAGAGACCATGAGCCAAGGAATTTGATGGTCACTAGAAGCTGGAAAAGACAAGGAAACAGATTGCCCCTTAGAGTTTCCAAAAGGAATGAAACCTTGTGGACCCATTTTTGACTTCTGATCTCTAGAACTGTAAAATAATAATTTTGTGTTTGTTTTAGCTAACACATTTGTGATAATTTGTAACAGCAGCAGTAGGAAACTAAAACACTTCCCAGGTTTATGATTTGAGAGTTCATTAAACAAGAGATGGTCACCTCTTTGGTTCCTAAATCATCTTGGAAACAAAGCCATTTCCAGAGAGGAATTTTAAAATACTGTCTGCAGTCATAGCAACCTTAAAATTTGAGTGCTGCATGGTGGAAGTAGACAATTTATTTTAGGATAACTGTTATTTGTTATATTAGTTTGAGGATGGTGGTGTTAAAGAGGAGTTACTTATTTTTAGGTACATTTCATACTAAACACAAATTGCATAATTTGCCTAAATCAAGGAATTATACTAAATTATATTATGGTTATTAAATCCTGTCCTGAGAAAGTGAAACTGACTCAGTTTTCAAAGAGACAAAGAGAAAGTATAAGCAAACCAAATTGCAGCTACAAAAAGAAAGACAAAATGTTGCAGTATATTTATTGTTTTGTGTATTCAATGAAGTCCTTCGTCTTGGTCATAAAACTAGCCTTAAAGGTTTTTCTTATATTTCATAGTATGAAAAATCTAAAAAGTAACCCATATGTAAATATTTAAATCATGATAGAAATCCAAAGCAAAAAGAAAATGAATCAAT
|
Task1_train_12702
|
This is a variant in PLAA (phospholipase A2 activating protein), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
TACTTTTGTATTCAGAAAAAACATTAAGAGAATCATAGGAAAGTTTAACTAAAAAAGAAAATCTTTAAAATATCATTAAATTATTTAACATATCCTTCAAGTGAGATTGTTTCCTTTTGCTAAGCTATATTTTGTAATCTCCACAACAAACATGAAATAGTAAAGTTGACATAAAAAAACTTGCACAGTAATAGGAAGCAGTGTTTACATTTTGCCACCCCTTACATTTTGAAGAGGGAACTCATATTCTTAACCAAGACTGTTTCTTATCATTATTCAAAGGTACCTACTTTTCCTAAATATTGCAATTAAATTATTTGTACTTAAGAAAGCAGTGTATTGTAAAGGAACCAGCCAGACCTGGGTTAAATTCCTAATTTTGCCATTTAACTTTGACATAACCACCTAAACCCAATCAAAAAACGAAAAGTATAGGTACTCAACTGAGCCAGTGAACAGAATATTTAGTCCAGGTACACACCAGGTAGTTCCAATTTAATACTCAGCAAAGTACATATCCCCTCTATTTACATTTTGCTCATTTCCTTTTGATATTCCAAAAGTTCTTACTTGGGTTACTCTTGACAATTAGAACCTTTCTTGCCCATTTGGGGAACAATTATTCTTCTAAGGCTATAATTTGGCATTAAGCCAGGGGATTCATGGTTTTTACACCACGAGTATTGAGAATGTTGCTATTTCTGGCAACGTCTTTATGAAAAGATCTTTCCCACTTTTGAAAATAGTTACGCTTCTCTCAAGAAACTGGGTTACCTCAGACACAATAAATTGTGTAATTAATGTGATGGTTCCTTCTTTGTGTTAATTGCTAGGATGTTCACACACATCTGTGATCTCTCTAGAAAGTATAGCATAGCATGTACTTTAAGTAGTTAACTCCCTCTTGGCTTCACTTTTTTTTTTCTGTTATATGATTCATCCTATTATGTCTACTTCTGAAAGCAGAGATAATACTGGCCCTCATTTAAAGGGGTTTTAAGGATTAAATATCAGTGTGTCTACTATTCTGCCTGGACCACATAGAGGGCTCAAAAATAGTAATTTCACATGACAGGTTCTAGACTTTCAAATAATACAGTTTGATGTACTCTTGCTTATGTAACCACCTGATAAAATTCAACATGTTCCAAATTCCCTTTGAAATAATGGAAAATGACAAAAATAAACAGCCAAATATCAAAACTAGAATGAAAAATGAAGTTACCTCAAATAGTGAAGGGCAAAAGAAACTGGATCTAAGCCTGGAGTTAAATTGAGACCTCGTCTGTCTGAACTGATACATGACTAACACAGCTTACCAACTGGCTTTTTCTTCATCTAAAAATAGGCCATTAAACAAATATACTTTAGGATTTATAAATGACAAATCAAGAAATTATCTTATATTGTTTTAATATATGAATTTATAAATTATTTTATAAATTTAATATAATTTAAAAAATTTTAAAGTAGTTATCCTAAAACAAGACCTTGAAATGTATCAGTGCTGTTCGAAGGATCTAGCAATGAAGGTGGAGAAGTTAAATAAAAGATAATTGACAACAACAGTTTGGTGTACATTAAGTAATAAAAGCAAGTTATATGAGTAACAGCCCTTGTCTTCTTAGTGGCTAAGGTAAGGGGAAGATGTCATTGTCATTGTGTTGTTGCTGATTATAGCTTATTTTAAATTTGTGTTCACACTCTTGAAAATCTACCCAAATTACACAGGAAAATCTCACAGTTCAGCAGTGCAAAAATTTTATTTCTGTTTCCCCTCCCCACCACTTTACAAGATGTAAAATTTTACTTAATCCACCGTATTCTCTTTTTTTAATTATCTGTTATCAGTCATGTCAAATGTGAGGAAAAAAACACTAATCAATTAAAAATATCCGTCCCTCTTCCCCACTGCTACAGCAAATTTAGGATAAATCTACAGCATTCACTTACTTTAGCTGGTTCTGATACTGAGGAATACTTTTTTATTTGAGAATCAACACCTAAAGACTTGGCTAATTGTACAGCATTTGAATCATCACTGATAAGTGTTCCAAGAGCCACAAGAAGTCTAAAAGTGGCTTCTAGGTCTTGTACTACTTCCAAGATTGTGCTAATTAGTGACAAACATTGGGCTTTCCCTTCAATGTTATGGTCTTTATGAAAACAAACAGAATAGTTCAGGGCCAATGTAGCCAGAGCAATGTGAATGTTCTTATTGCTCCCTGATTTCAGTTCTATTGCATGGGACATCAGTGATTCCCTCTGGGACATCATGAGTTTTTGTCCTGCCTGGCCAACAAAACAATTGCAAAAAGTCCTGAGAGCAAGCAGCTGGTTTGCTGGCTTTCCTTTAGGGTTCAGAAGATTGATAAGATGACTGCTGAACTGAGCCCCTTCCTTTTCATTGCAGAAGTTCTCATTCACACTGGGGTGTTTAATTGACAACCGAAGAATGTCAAGTGCAGGAAAGACAATATCTATTAAAAAAAAAAAGTCATTAATGCTTATGAAAATAAAGAAAATTTCTTTTGACTATCGACTTTGAAGGATTTTATTTTCCCACTGCAAAACTAACCATTTTAGAAAATGTGAAAAATCATGTGTCTGCTTTAAAAAAAATGCATATATTTCTGAAACTTTTGTTAATTTTTCATATTTATATAAACTAGATTTATTGCTGTAAGATCATATTCGCTTTAAAAATAAGGTAACTCTCTCAAACAGCCTACACACTGTGAGTATTCAAAAATGAATGGAAAGAATGGGGTGCAGACTTTGCTTTTAAAAAATTCTGTAAGACCGAACAATTAAACAGGGAAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCACTCCTGTTGCCCAGGCTGGATTGCAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGTGCACGTCACCACGCCCAGCTAATTTTTGTATTGTTAGTAGAGACGAGGTTTCATCATATTGGTCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTACCCAAGTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGAAAGTTCTTAAGAGAAGAATTCCAGTTAACAAGTGATAGGATGCTTATAGGTTGGTGGGAGCTTTATAATCAAGGGCCTGGGTAGATGCCATCTGAATGAATGCACAAAATAATCTTAGCATCACTAAAGGTGAGGAAATCCAACATTATGTGCTCCGTAATGTAAAAGTAGTATGCATCATCATTTATAAAGGATTTCACCTAAAAAAAAAACACCTACTGAACCAGAATCTAATTTTGCCACTAGCAATAAATACAGAGATGGAGGAACACATCAGCAAAATCCATAATATGGGACATTTTATTGAAAAAAAAAAAAAAAAGACTTTTTCTCCAATAAATCAGTGGCATAAAAAAAAATAACAGGCAAGGACTCTTTGAGAATTAAAAAAGACTTAACTGACATAATTGGAAAAAAAAAAACTTACAGTAAATATTTGTAGCCTAGGGTTAACAGGTCACTAAGAGTATCTTGGATGCCTGGCCAGGAATCCACAAATGCTCTGAAACAGTAAACAAACAGGTGCATGCCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGGCTGAGGCGGGAGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATTTCAAAAACAAAAACAAAACAAAACAAAAAAACAAAGAAAACAAACAACAACAACAAAAAAACAAACTGGTGCATATATGGGGATCATATATTACCTTCAGATTCTCAAAAGGCATGTAACGGAAACAAGATCATCAATTCCAGTAGTGTAGTGAA
|
TACTTTTGTATTCAGAAAAAACATTAAGAGAATCATAGGAAAGTTTAACTAAAAAAGAAAATCTTTAAAATATCATTAAATTATTTAACATATCCTTCAAGTGAGATTGTTTCCTTTTGCTAAGCTATATTTTGTAATCTCCACAACAAACATGAAATAGTAAAGTTGACATAAAAAAACTTGCACAGTAATAGGAAGCAGTGTTTACATTTTGCCACCCCTTACATTTTGAAGAGGGAACTCATATTCTTAACCAAGACTGTTTCTTATCATTATTCAAAGGTACCTACTTTTCCTAAATATTGCAATTAAATTATTTGTACTTAAGAAAGCAGTGTATTGTAAAGGAACCAGCCAGACCTGGGTTAAATTCCTAATTTTGCCATTTAACTTTGACATAACCACCTAAACCCAATCAAAAAACGAAAAGTATAGGTACTCAACTGAGCCAGTGAACAGAATATTTAGTCCAGGTACACACCAGGTAGTTCCAATTTAATACTCAGCAAAGTACATATCCCCTCTATTTACATTTTGCTCATTTCCTTTTGATATTCCAAAAGTTCTTACTTGGGTTACTCTTGACAATTAGAACCTTTCTTGCCCATTTGGGGAACAATTATTCTTCTAAGGCTATAATTTGGCATTAAGCCAGGGGATTCATGGTTTTTACACCACGAGTATTGAGAATGTTGCTATTTCTGGCAACGTCTTTATGAAAAGATCTTTCCCACTTTTGAAAATAGTTACGCTTCTCTCAAGAAACTGGGTTACCTCAGACACAATAAATTGTGTAATTAATGTGATGGTTCCTTCTTTGTGTTAATTGCTAGGATGTTCACACACATCTGTGATCTCTCTAGAAAGTATAGCATAGCATGTACTTTAAGTAGTTAACTCCCTCTTGGCTTCACTTTTTTTTTTCTGTTATATGATTCATCCTATTATGTCTACTTCTGAAAGCAGAGATAATACTGGCCCTCATTTAAAGGGGTTTTAAGGATTAAATATCAGTGTGTCTACTATTCTGCCTGGACCACATAGAGGGCTCAAAAATAGTAATTTCACATGACAGGTTCTAGACTTTCAAATAATACAGTTTGATGTACTCTTGCTTATGTAACCACCTGATAAAATTCAACATGTTCCAAATTCCCTTTGAAATAATGGAAAATGACAAAAATAAACAGCCAAATATCAAAACTAGAATGAAAAATGAAGTTACCTCAAATAGTGAAGGGCAAAAGAAACTGGATCTAAGCCTGGAGTTAAATTGAGACCTCGTCTGTCTGAACTGATACATGACTAACACAGCTTACCAACTGGCTTTTTCTTCATCTAAAAATAGGCCATTAAACAAATATACTTTAGGATTTATAAATGACAAATCAAGAAATTATCTTATATTGTTTTAATATATGAATTTATAAATTATTTTATAAATTTAATATAATTTAAAAAATTTTAAAGTAGTTATCCTAAAACAAGACCTTGAAATGTATCAGTGCTGTTCGAAGGATCTAGCAATGAAGGTGGAGAAGTTAAATAAAAGATAATTGACAACAACAGTTTGGTGTACATTAAGTAATAAAAGCAAGTTATATGAGTAACAGCCCTTGTCTTCTTAGTGGCTAAGGTAAGGGGAAGATGTCATTGTCATTGTGTTGTTGCTGATTATAGCTTATTTTAAATTTGTGTTCACACTCTTGAAAATCTACCCAAATTACACAGGAAAATCTCACAGTTCAGCAGTGCAAAAATTTTATTTCTGTTTCCCCTCCCCACCACTTTACAAGATGTAAAATTTTACTTAATCCACCGTATTCTCTTTTTTTAATTATCTGTTATCAGTCATGTCAAATGTGAGGAAAAAAACACTAATCAATTAAAAATATCCGTCCCTCTTCCCCACTGCTACAGCAAATTTAGGATAAATCTACAGCATTCACTTACTTTAGCTGGTTCTGATACTGAGGAATACTTTTTTATTTGAGAATCAACACCTAAAGACTTGGCTAATTGTACAGCATTTGAATCATCACTGATAAATGTTCCAAGAGCCACAAGAAGTCTAAAAGTGGCTTCTAGGTCTTGTACTACTTCCAAGATTGTGCTAATTAGTGACAAACATTGGGCTTTCCCTTCAATGTTATGGTCTTTATGAAAACAAACAGAATAGTTCAGGGCCAATGTAGCCAGAGCAATGTGAATGTTCTTATTGCTCCCTGATTTCAGTTCTATTGCATGGGACATCAGTGATTCCCTCTGGGACATCATGAGTTTTTGTCCTGCCTGGCCAACAAAACAATTGCAAAAAGTCCTGAGAGCAAGCAGCTGGTTTGCTGGCTTTCCTTTAGGGTTCAGAAGATTGATAAGATGACTGCTGAACTGAGCCCCTTCCTTTTCATTGCAGAAGTTCTCATTCACACTGGGGTGTTTAATTGACAACCGAAGAATGTCAAGTGCAGGAAAGACAATATCTATTAAAAAAAAAAAGTCATTAATGCTTATGAAAATAAAGAAAATTTCTTTTGACTATCGACTTTGAAGGATTTTATTTTCCCACTGCAAAACTAACCATTTTAGAAAATGTGAAAAATCATGTGTCTGCTTTAAAAAAAATGCATATATTTCTGAAACTTTTGTTAATTTTTCATATTTATATAAACTAGATTTATTGCTGTAAGATCATATTCGCTTTAAAAATAAGGTAACTCTCTCAAACAGCCTACACACTGTGAGTATTCAAAAATGAATGGAAAGAATGGGGTGCAGACTTTGCTTTTAAAAAATTCTGTAAGACCGAACAATTAAACAGGGAAAGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTTTCACTCCTGTTGCCCAGGCTGGATTGCAATGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGTGCACGTCACCACGCCCAGCTAATTTTTGTATTGTTAGTAGAGACGAGGTTTCATCATATTGGTCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTACCCAAGTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCGGAAAGTTCTTAAGAGAAGAATTCCAGTTAACAAGTGATAGGATGCTTATAGGTTGGTGGGAGCTTTATAATCAAGGGCCTGGGTAGATGCCATCTGAATGAATGCACAAAATAATCTTAGCATCACTAAAGGTGAGGAAATCCAACATTATGTGCTCCGTAATGTAAAAGTAGTATGCATCATCATTTATAAAGGATTTCACCTAAAAAAAAAACACCTACTGAACCAGAATCTAATTTTGCCACTAGCAATAAATACAGAGATGGAGGAACACATCAGCAAAATCCATAATATGGGACATTTTATTGAAAAAAAAAAAAAAAAGACTTTTTCTCCAATAAATCAGTGGCATAAAAAAAAATAACAGGCAAGGACTCTTTGAGAATTAAAAAAGACTTAACTGACATAATTGGAAAAAAAAAAACTTACAGTAAATATTTGTAGCCTAGGGTTAACAGGTCACTAAGAGTATCTTGGATGCCTGGCCAGGAATCCACAAATGCTCTGAAACAGTAAACAAACAGGTGCATGCCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGGCTGAGGCGGGAGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATTTCAAAAACAAAAACAAAACAAAACAAAAAAACAAAGAAAACAAACAACAACAACAAAAAAACAAACTGGTGCATATATGGGGATCATATATTACCTTCAGATTCTCAAAAGGCATGTAACGGAAACAAGATCATCAATTCCAGTAGTGTAGTGAA
|
Task1_train_12703
|
Mutation context: Chromosome 9, Gene PLAA (phospholipase A2 activating protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
GCTATGTTGGCCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCACACCTGGCCTGATAATTCTATTTAAATCAACATGCAGGTAACATTAGTTTTATTTTATGAATGGGCAATGAAATTTTGAAGTAGAATGAGGAGATAATTTGGGAATGTGGAGTAGCTGTCAGGGAAGAAAAGGTGGATCTACATAAGGATTTGAGACAGGAATATAATACAAAGTCCTCGTAAAACAAGGAAGAGCACTAGCACCTGAAAAATGTTGAGTCAGAAATGATGAGAGGAAAACATTAACAGTAAAGTGCCTATCTCAAAATGTTATTTAGAGGAGGCATTTTATTTCCTCCTACACCAGTCTCCAGAACTCACGTTAATATTACTAGGATTAGATTCCACTTCCTAGGGGCCAGAATTTGGACTAGTACCATTAGGATTACAATTTACAGACTGGTATGAGCACCTAACTGCATTTATAACATGAGATACGATGTATACGATGTTACAAACAATTAACTTAAAATGAACGTGTAGAATACACATCACATATAAACTAAAACTACCCATAGGGTTCACTTTTAGATTTGATGCATGACTGACCAATTTAGCCTCATGTGAAAAAAAGATTTACTAAATTTTGCCAAAATATAATTTTTTAAAAGAAACACTATATAAAAGAACTTACAAGTTTATTTTTGTTTCAAATAACTGAAATTCCATTATAGTATGATTGTATTTTTGAAAGACAACAATTTACTATTATTTCTGTAAAATACAGAATTACTTCATCATTTGAGGCTTAAACATATGAATGTGAAGTAAAACCCTGCTGTAGATATTGGTATTTATTGAAAAAGCTAATCACATGACTATTTGAAAACATCAAAAAAATCAATCAACACTAATGGAACTACATAAGACTCAATATAAACACTAACTTACCTGTAAATGGATCTGAAAAGCTGGGATTCCCAAGTCCCAACATTTGACCTTTTGTGTTATCAATAATAAATTTAGCTACTTGATCCAGAAACATAGGATTCAAATCATTCTTCTGTAAGAAGTTGTATGCAGTTAACCAAGGGTCATCACTGGTATTATATGGCAATTTATATGATGGTCCACCTTCATTGACATCAATTGAGAAAACATAATCAAATTCCTAAAGTAGGAATATAAAAAGGAGATACATGCTTATTATCTGTTCACATATATTAATGACATATACAACATAACACAGATGTGTTCTTTAATAATTACAGTACTTAAACTTTCTCCAAAGTGCAGTGCTAAAATCTTCGTTTTTGGCAGATAAAGATTAACAGCCCCCATCTGCATGTGATGCAAAATTAGTATTTCATTAGGGGATGGGGGTGAGGATGAAGGATGGATTACAACTACATATTAACTCTAGAGCCAAAGCAGAGTTTCCAACTGGTTTGATATCAAGATCAAAATTATCAGCTGTTACTGTGCCCTACTCACCAAAACGTGCTGGCATTTTAAGCACTGCCCTGCAGGGTCTCTCATGTCTTGTCAAGTTAAATATAGCCAGGCATGAGGCATTTGATGAAAGGTGGCACAGAAGCTCCCAATCCAAAATGGCTGGGAACAGCTTTTGTATAGAAACTACTACATGACAGACAATTGCTAATTTGTCTCTCAAATGCAGCTCTCACTACATGGAAAGATACTTTTAAAATATCTATTTCAAGACAGGGAAAAAAAAGATTAGTTTCCCACAGTAATGGATTTTTAAATGTCAAAACAAAGGAAATTTTATCACTATGGGGCAAAGGAAACCTTTAATTTGCCTAATATTTAAGACAATAGTAATTAGAAAGTAGAAGTCGACATACTTTCCCTTCATATAAAACTTTTCCAGATGTTTGCTGATTAGCACCAGATGAGCCAACAACATCACCAATTTTTATCCACCTCCCTTCACTAACACTCCACTGATAGGCTTCGACTTTCTCCCCATCTCTGATTAGACGAGTCTGTCCTTCTCTAGTACCTTAAAATAAAAATTTTAAGAATCAAAGGTAGAATGGCAATGTAAAATTGAAAAACATTTAAATAGAAAATTCTTAACATTAAAATTTACACATAAGAGAATATGGATTTTGTTTCAAAATAAAATTGTATCAAATAAAAGATTTAAAAATGTGGCCAAAAGAAAATAACAGTTAAAAGGAAATATTATTAATCAAAGGAAGGTTAACAAAACGTGATTCTACTAGGAAGCAACTGGCCCATCAAAAATAAAACAAGTTTTATTAGTGAATATATCTTCCTAACACATTTCATTCCGTAAATGGCTCTCCATTAATCCAGTGGCTCAAACTGAAAAGTAGAAAAGCCTGATACCTTTCTCTCAACCCCATCGCTCCTTCGGCTACTTCTCAGCACCCCCTTCAGCTACTGCTATCAGCTCATTCTTTAAAATATATCTAGAAAACTGTCTCCTTAATATCTCCATCATCATCCCTTGGTCCAAGCCACCATCATTTCTCAGTTGGGTTGATTCAACGGCCTCTTTCCTGTACTCTTGGCCCCCGACAGTGTATATTCCACCCAGCAACTTCAGGAATTTTTTCAAAAGTTTAAGTAGGTCCTGACACTCTTCTGCTTGAAACCCATCAATGCTTTTCATCTCACTTGGTAAAAGCCTAAACTCTTGAGTAGTGTACAAGACCAAATATAAATTGTCCACACTATCCTACATGACCTTACTTTCTACTATTCCCCCTGTCCCCTCATCTCCCAACTTCAGCCACAGAGCCTTTGTATTAGCTGTTTATTCTGCCTATGATGCTCTTCACACAGATATTGGCAGTATTTGCTCCTTTCCCTCTTTAACAACTTTACACAAATGTCATGTTCTCAACAAGGCCTTCAGTGGCGGAGACAGCTATCCATCCTCCGAAGAATCATGCTCTTCTTCCATTAGATACAGCTGTAGTTGTCTAGCCAGAGACTACATTATCTAGTCCCCTTGCATTGGGCAGTCACATGATGTCACATTACTGAGTAATGGTCAGTGGAATCTGGGTGGATGTGATATATGCCAGTTCTGGCCTAGTCCATCATACTTTAATCTCCCCTCTTACCCCATCTTAATCTGTTTCAATTTGTTATTTTGGTTGACTACAAAAAGAAAATCCAGCCTAACACACGTAGGTAGTTGAAAAAGAGAAGACAAGTCTTTTCAGAAAATGTGGATAGGCCAGAAATACTAGTTTTTTAAACGCTACAGTGTACAATCTGAAACCACATCAATGAATTTTTCATGCTCTATTATACTAAAATCCACTGGTCTATCTTGTACTTTGAATGGATCTTTTACCCATGTCTGAGATGGTATCAGATACTAGTCATATGGAAAATAATGGTTCAATAACTTACGCAGATCTTCTGCATATTCATACAGTTTATTATTCAATATTAAAAAATGGCATTTGTTAATGTTATTACCACTAGTATCAATACAAATGGGAAGCTACTAAGTTCCTGGTGGAGATACATTTTTCCTACATTTCAATTTTCACTCAAACACTTGAATTTTATCTTTGGCAACATATATTATCAGTTATTTTCCTTGACGGAACATGCTCAATTTGTTCATTTTCAAAAAACGTCTGCCAAATACCAAAGCCTGAATAACCGTAGTCATTCTTTCAAATAAAAATAGCACTCCATGAAAAAACTGGTAGTTTAGCCTGCAACTCAAATGACTGCGCATGTTCTTTTCTTTGAGACACCACAGTATTTTGACTTACTTTATGTCTACTTTAGGTTTTCTCACCCGGAATATTTAAAAAGATGTGTCAAAATGTAATAAAACTGATAATTCTTAATATTAATACCTCATCAAGGACATGCTTAATGGCAAACTGTTTTTTTTTGTTTTTATTGTTTTTTTTTTTTAAACTACAACTGCATGCAAGTAGAACATAGTAACTTACCAGAATGGTTTAAAGCCCCTGGCTTGATTTACATACTAGTGAACCAGTGGTTTTACCCACCATTGTTTTTGCACCATAAGTGCAAAC
|
GCTATGTTGGCCAGACTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCACACCTGGCCTGATAATTCTATTTAAATCAACATGCAGGTAACATTAGTTTTATTTTATGAATGGGCAATGAAATTTTGAAGTAGAATGAGGAGATAATTTGGGAATGTGGAGTAGCTGTCAGGGAAGAAAAGGTGGATCTACATAAGGATTTGAGACAGGAATATAATACAAAGTCCTCGTAAAACAAGGAAGAGCACTAGCACCTGAAAAATGTTGAGTCAGAAATGATGAGAGGAAAACATTAACAGTAAAGTGCCTATCTCAAAATGTTATTTAGAGGAGGCATTTTATTTCCTCCTACACCAGTCTCCAGAACTCACGTTAATATTACTAGGATTAGATTCCACTTCCTAGGGGCCAGAATTTGGACTAGTACCATTAGGATTACAATTTACAGACTGGTATGAGCACCTAACTGCATTTATAACATGAGATACGATGTATACGATGTTACAAACAATTAACTTAAAATGAACGTGTAGAATACACATCACATATAAACTAAAACTACCCATAGGGTTCACTTTTAGATTTGATGCATGACTGACCAATTTAGCCTCATGTGAAAAAAAGATTTACTAAATTTTGCCAAAATATAATTTTTTAAAAGAAACACTATATAAAAGAACTTACAAGTTTATTTTTGTTTCAAATAACTGAAATTCCATTATAGTATGATTGTATTTTTGAAAGACAACAATTTACTATTATTTCTGTAAAATACAGAATTACTTCATCATTTGAGGCTTAAACATATGAATGTGAAGTAAAACCCTGCTGTAGATATTGGTATTTATTGAAAAAGCTAATCACATGACTATTTGAAAACATCAAAAAAATCAATCAACACTAATGGAACTACATAAGACTCAATATAAACACTAACTTACCTGTAAATGGATCTGAAAAGCTGGGATTCCCAAGTCCCAACATTTGACCTTTTGTGTTATCAATAATAAATTTAGCTACTTGATCCAGAAACATAGGATTCAAATCATTCTTCTGTAAGAAGTTGTATGCAGTTAACCAAGGGTCATCACTGGTATTATATGGCAATTTATATGATGGTCCACCTTCATTGACATCAATTGAGAAAACATAATCAAATTCCTAAAGTAGGAATATAAAAAGGAGATACATGCTTATTATCTGTTCACATATATTAATGACATATACAACATAACACAGATGTGTTCTTTAATAATTACAGTACTTAAACTTTCTCCAAAGTGCAGTGCTAAAATCTTCGTTTTTGGCAGATAAAGATTAACAGCCCCCATCTGCATGTGATGCAAAATTAGTATTTCATTAGGGGATGGGGGTGAGGATGAAGGATGGATTACAACTACATATTAACTCTAGAGCCAAAGCAGAGTTTCCAACTGGTTTGATATCAAGATCAAAATTATCAGCTGTTACTGTGCCCTACTCACCAAAACGTGCTGGCATTTTAAGCACTGCCCTGCAGGGTCTCTCATGTCTTGTCAAGTTAAATATAGCCAGGCATGAGGCATTTGATGAAAGGTGGCACAGAAGCTCCCAATCCAAAATGGCTGGGAACAGCTTTTGTATAGAAACTACTACATGACAGACAATTGCTAATTTGTCTCTCAAATGCAGCTCTCACTACATGGAAAGATACTTTTAAAATATCTATTTCAAGACAGGGAAAAAAAAGATTAGTTTCCCACAGTAATGGATTTTTAAATGTCAAAACAAAGGAAATTTTATCACTATGGGGCAAAGGAAACCTTTAATTTGCCTAATATTTAAGACAATAGTAATTAGAAAGTAGAAGTCGACATACTTTCCCTTCATATAAAACTTTTCCAGATGTTTGCTGATTAGCACCAGATGAGCCAACAACATCACCAATTTTTATCCACCTCCCTTCACTAACACTCCACTGATAGGCTTCGACTTTCTCCCCATCTCTGATTAGACGAGTCTGTCCTACTCTAGTACCTTAAAATAAAAATTTTAAGAATCAAAGGTAGAATGGCAATGTAAAATTGAAAAACATTTAAATAGAAAATTCTTAACATTAAAATTTACACATAAGAGAATATGGATTTTGTTTCAAAATAAAATTGTATCAAATAAAAGATTTAAAAATGTGGCCAAAAGAAAATAACAGTTAAAAGGAAATATTATTAATCAAAGGAAGGTTAACAAAACGTGATTCTACTAGGAAGCAACTGGCCCATCAAAAATAAAACAAGTTTTATTAGTGAATATATCTTCCTAACACATTTCATTCCGTAAATGGCTCTCCATTAATCCAGTGGCTCAAACTGAAAAGTAGAAAAGCCTGATACCTTTCTCTCAACCCCATCGCTCCTTCGGCTACTTCTCAGCACCCCCTTCAGCTACTGCTATCAGCTCATTCTTTAAAATATATCTAGAAAACTGTCTCCTTAATATCTCCATCATCATCCCTTGGTCCAAGCCACCATCATTTCTCAGTTGGGTTGATTCAACGGCCTCTTTCCTGTACTCTTGGCCCCCGACAGTGTATATTCCACCCAGCAACTTCAGGAATTTTTTCAAAAGTTTAAGTAGGTCCTGACACTCTTCTGCTTGAAACCCATCAATGCTTTTCATCTCACTTGGTAAAAGCCTAAACTCTTGAGTAGTGTACAAGACCAAATATAAATTGTCCACACTATCCTACATGACCTTACTTTCTACTATTCCCCCTGTCCCCTCATCTCCCAACTTCAGCCACAGAGCCTTTGTATTAGCTGTTTATTCTGCCTATGATGCTCTTCACACAGATATTGGCAGTATTTGCTCCTTTCCCTCTTTAACAACTTTACACAAATGTCATGTTCTCAACAAGGCCTTCAGTGGCGGAGACAGCTATCCATCCTCCGAAGAATCATGCTCTTCTTCCATTAGATACAGCTGTAGTTGTCTAGCCAGAGACTACATTATCTAGTCCCCTTGCATTGGGCAGTCACATGATGTCACATTACTGAGTAATGGTCAGTGGAATCTGGGTGGATGTGATATATGCCAGTTCTGGCCTAGTCCATCATACTTTAATCTCCCCTCTTACCCCATCTTAATCTGTTTCAATTTGTTATTTTGGTTGACTACAAAAAGAAAATCCAGCCTAACACACGTAGGTAGTTGAAAAAGAGAAGACAAGTCTTTTCAGAAAATGTGGATAGGCCAGAAATACTAGTTTTTTAAACGCTACAGTGTACAATCTGAAACCACATCAATGAATTTTTCATGCTCTATTATACTAAAATCCACTGGTCTATCTTGTACTTTGAATGGATCTTTTACCCATGTCTGAGATGGTATCAGATACTAGTCATATGGAAAATAATGGTTCAATAACTTACGCAGATCTTCTGCATATTCATACAGTTTATTATTCAATATTAAAAAATGGCATTTGTTAATGTTATTACCACTAGTATCAATACAAATGGGAAGCTACTAAGTTCCTGGTGGAGATACATTTTTCCTACATTTCAATTTTCACTCAAACACTTGAATTTTATCTTTGGCAACATATATTATCAGTTATTTTCCTTGACGGAACATGCTCAATTTGTTCATTTTCAAAAAACGTCTGCCAAATACCAAAGCCTGAATAACCGTAGTCATTCTTTCAAATAAAAATAGCACTCCATGAAAAAACTGGTAGTTTAGCCTGCAACTCAAATGACTGCGCATGTTCTTTTCTTTGAGACACCACAGTATTTTGACTTACTTTATGTCTACTTTAGGTTTTCTCACCCGGAATATTTAAAAAGATGTGTCAAAATGTAATAAAACTGATAATTCTTAATATTAATACCTCATCAAGGACATGCTTAATGGCAAACTGTTTTTTTTTGTTTTTATTGTTTTTTTTTTTTAAACTACAACTGCATGCAAGTAGAACATAGTAACTTACCAGAATGGTTTAAAGCCCCTGGCTTGATTTACATACTAGTGAACCAGTGGTTTTACCCACCATTGTTTTTGCACCATAAGTGCAAAC
|
Task1_train_12704
|
The gene PLAA (phospholipase A2 activating protein) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
ATGTTTGGATTAGATGGCCGTCCTTAACCTCTTTTCTCAGAAAAATTACTTTATCTCCATGATTTCTTAATTCGAAATTCTGAGATAGGAGAAGCAAATTAGACACTTCCAACTGTATTAATCCTGGCCCATTCTACAGGAAACCTGTTTCTAACTTATTCGTCCACAAACATGTACATCACTCGTTCTATTGGTTTTTCTTCATATGCTTAGGAGGGAAAAAAACTAAGCCTATAAATCAGCCTCTGTCCCAGCCAAAAAATAAAACACCCACTTTATTAGACCCTCTATCCCTTATAGCTGTCACCTTCTTTTTCTTCTCTTTTTCTTTGAGACAGGGTCCAACTCTGTCACCTAGGCTGGAGTGCAGGGGCGGCAATCACAGCTCACTGCAACCTCAAATTCCCGGGCCCAAGCAATCCTCCCACCTCAGTCTCCTGAGCAGCTGGGACTACAAATGCATGCCACCATGCCCAGCTAATTAAATATTTTTTTTGTATGGAGACAGGGTCTCGGTAGCTCACCCAGGATAGTCTCGAACTCCTGAGCTCAAGCGATCCTCCCACCTGGACCTACCAAAGTGCTGGGATTACAAGTGTGAGCCACAGCAGCTGGCCTTCTTATTGCTTTCAATGCTAGAGTAGCATTATAGAGTAGTCTATGATCCTTCGTCCATCTCCTCCAACCCTTTATTTCCTCTTATTTGCCTTTTTTTCTATCATTTTCTATTCAAAATGTGATTGATGCCAAAAGTCACTAATAACATCTTTCAAACCAAATCCAAATGCTTTTCAAACTTTCCATTCTTTGACTCCTCAAACACTTTTGACACTGATGACAATCTCCCTCCAAAATCTCTCCTTTTCTGTCTCCCAGAAATTTCAACATTTGAATTCCTTTGTTCTGTTTAACCTACTAACTTCTTTTTCTCTACTAATGGTATATCATAAAACTTAGTTCTTAGTCTTCTGTTCCTCCCCTGTATTTCTTCCCTCAGAGAATGGTGTTCTATGCTTTGCTTTTGGAAGCTTTGCGAAATCTTTATCTTAGCCTCAGTTCTTATACTAAGCTCCAGTTCAAATGACCATGATCCACTGGCATGAGTGTGGCTCACCACCACTGCAGACCTCAGGAAGTCTAAGGCCACGGTCATCACCTTCTGTACCCAACCAATTCTCCCACTTCTCCATTTTTATTAATGAAGATTTCCAATCACTAACAGTTTGAAGCTTTATCCTTTTCTTTCATACTTTTTCTGATTGTTTTCCTTCTGGATTATCTCATTTACTTATTTCCTACCCATTAGCATTGTGGGGCCAATGTCTTATAACTTCACACTCCTTCTGTACTTGCTTTCTAATTTACTTTCCTGTCCATTGTCACCAGCAGTTAAATCCAATCTACATATTTAGTAATTCATAAGTTCTGCTTCAATCCTATTTCTTGCTCAAGAACTACAACCCTTCAACCCCAGGCAATGAATCTAAAAAATGCCTGGCATGAAAGCACTAAAGGTTCTCCACAGTTAAGCCCCATTGTACCTATTATCTCAGCATTAGTACTCCACCATTTTCCTTCACTTCCTATGCATGCTGCATTCATTCTCATGAAGGAAACTTATACTCTTAGCTTTGACAAAAATTTGCGTATCTTTTCTCACTCATAATCTTTCAAAATCCAGTTCAAATTTCTTCTTCTACAGAAAGTTTTCCCACACCAATCTCTACCTTCTCTAACTTCTTTTGTAGTCAATATCTTGACTGCACAATTGCAGTACAATACTGGTATATCATGCATCATTGACTGCACAATTGCAGTACAATACTGGTATATCATGCATCCCTTAGTATGAAAGCTATAATATCTACTACTGTTTTGTTTAGTAATTGAAGTGTCCATATAGTCTCCTCAAGTCACGTGAAATTCCTTATGGCTTATCTCTGTACACTCTAGTTCCTACTGAAGGCCTAGACATATAACATTTAATGATTGACTAGAATATAAATACCTCGCACCAACCACAATGTCACCATTGTCGAGCACACAGCAGCACCATATAGACTGAGCTGGAAGTCGGATAGTTTGAGCACATTCCCCATGTTTCCAGATTCTCAGAGATCTGTCCTCTGCTGTTGTCACAAAGTCTAAAATTAATGAATATAGGAAGTATTAGTTTGAATAAAATTAAGTACATTTATACATACCATCTTTCTAGATACACTGACTTTTTGAAACCCAGAGACTTTCAAAATTACAGTTTTAAATTTCATATGTTTGTCACTTACAACATATACAACTTCAAAATCACATTTTTTATTCATGTCACATCTTACAAAGTGTTTCTTCAGATACCCAAGAACTTTTTACAGCACAACATAAATCTGAATTAATATAAAGATGGCCATACAATTTTCTTCTTTGTAAACAGGAGAAAGATACTTAATGAAATAAATTTACTAAATTATTCAAGTCATAGATAGTAAATTAAGTAATCAGCTCTCCTCCCTCCATCTCACAAATGGGATGGAATAATGCTCAATACAAAACATTAAATAAATAGCATAAAATAATCTTACCTCTACAATTTGGAAAAACGGATATGCTATAAATATAATTTGTATGTCCATAATATACTTCAAGACACTCGCCAGTGATTTGCCACCTTCTAATACTAGCATCATTTGCACAGGAAAGAAATTCTGTTTCACTCAAAATTGCCAAACCTCTTACACAGTCTTCATGCCCTGCATTAAAAAACAATAATGCAAATCAATAAAACTGATAATTTGGCTGATGGCTCTATACATTTTACTAACATTATAAAACATATCAGTGAGTAGTAAAAATTAATTTTCAAGTTAGAGAAATCTTTTTTTTTGTTGAAAGCCTGATAACCAAAATTTGTATTTAAGGTTTAGCAATATTTTTTTATCACCAGTCTTCAGAAGTTATTTTACATTCATCCTACCTTCTCCAAAAACCTCCAGAAATAGTATTTTGACCCCAATAATTTGTTTTCACCTGAAAATTCATTTTTAATTTTTCTTCCCCAACAAGAGTAATTTATAAAATATATAATATTCAAATATAAAAGAAATATATAACAAAGAGTAGCCCATAAATTTAAGAACAAAACATTCTCTGAAGCTTGTGAAGTCAGATTTCCTATGTTCAGTATCTGTTGACTTAAGAGTAGCTATCACAGATTAATAATGACTTGATACATATATATAGACTATATACTGAAGCAGAAACAGAAGGATGTTTAGTCATCATCCACTTTCCATCAAAAGATACTTTTTTTGTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTTTGTGGCCCAAGCTGGAGTGCACTGGCACTACCTCTGCTCACTGCAACCTGTGCCTCCAGGGTTCAAGAGATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGTGTGCATCACCACTCCTGGCGAATTTTTTTGTATTTCTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCATGGCCCCAAGTGATCCACCCACCTCAGCCTCCCGAAAGGCTGGGATTACAGTTGTGAGTCACTGCACCCAGCCAAAAGATACTTTTATCTGTACAAAGGGACTTCTTGCATATTATCTAGGGTAGTTACCAACTTTTAAGGAAAAAATTCAAAAAGGAAAAACAACACCAATTAAAATTAACAGTAAATACTTAAGTACCCTACAAATAAATCAATGATATTACTATTAGATAGCAGATGCATCAGTATTGGCATTATTTAATAGCTGGGGTTTAAAAAGAATACTCACCATAAACCACAACATAAACAAAGCTTGAAATTCGTTATAAACAATGTGCTTCAATATAAAGACACTAATAATGATTTCTTCCATATATGAAGATAACACTGCTGACTGACCATCAGTAAGGCTTATGTTTAGAAGTTTCAGGCTAAAAGTATTAAAATGACAACCAAAAATATAACTATATACCAAAAATTACATACATATATGCAGAAGCACATATGCATATTATATATAGCTTATCAGACAGCTATTTATCAGTCTACATTTGGCTGTTTTA
|
ATGTTTGGATTAGATGGCCGTCCTTAACCTCTTTTCTCAGAAAAATTACTTTATCTCCATGATTTCTTAATTCGAAATTCTGAGATAGGAGAAGCAAATTAGACACTTCCAACTGTATTAATCCTGGCCCATTCTACAGGAAACCTGTTTCTAACTTATTCGTCCACAAACATGTACATCACTCGTTCTATTGGTTTTTCTTCATATGCTTAGGAGGGAAAAAAACTAAGCCTATAAATCAGCCTCTGTCCCAGCCAAAAAATAAAACACCCACTTTATTAGACCCTCTATCCCTTATAGCTGTCACCTTCTTTTTCTTCTCTTTTTCTTTGAGACAGGGTCCAACTCTGTCACCTAGGCTGGAGTGCAGGGGCGGCAATCACAGCTCACTGCAACCTCAAATTCCCGGGCCCAAGCAATCCTCCCACCTCAGTCTCCTGAGCAGCTGGGACTACAAATGCATGCCACCATGCCCAGCTAATTAAATATTTTTTTTGTATGGAGACAGGGTCTCGGTAGCTCACCCAGGATAGTCTCGAACTCCTGAGCTCAAGCGATCCTCCCACCTGGACCTACCAAAGTGCTGGGATTACAAGTGTGAGCCACAGCAGCTGGCCTTCTTATTGCTTTCAATGCTAGAGTAGCATTATAGAGTAGTCTATGATCCTTCGTCCATCTCCTCCAACCCTTTATTTCCTCTTATTTGCCTTTTTTTCTATCATTTTCTATTCAAAATGTGATTGATGCCAAAAGTCACTAATAACATCTTTCAAACCAAATCCAAATGCTTTTCAAACTTTCCATTCTTTGACTCCTCAAACACTTTTGACACTGATGACAATCTCCCTCCAAAATCTCTCCTTTTCTGTCTCCCAGAAATTTCAACATTTGAATTCCTTTGTTCTGTTTAACCTACTAACTTCTTTTTCTCTACTAATGGTATATCATAAAACTTAGTTCTTAGTCTTCTGTTCCTCCCCTGTATTTCTTCCCTCAGAGAATGGTGTTCTATGCTTTGCTTTTGGAAGCTTTGCGAAATCTTTATCTTAGCCTCAGTTCTTATACTAAGCTCCAGTTCAAATGACCATGATCCACTGGCATGAGTGTGGCTCACCACCACTGCAGACCTCAGGAAGTCTAAGGCCACGGTCATCACCTTCTGTACCCAACCAATTCTCCCACTTCTCCATTTTTATTAATGAAGATTTCCAATCACTAACAGTTTGAAGCTTTATCCTTTTCTTTCATACTTTTTCTGATTGTTTTCCTTCTGGATTATCTCATTTACTTATTTCCTACCCATTAGCATTGTGGGGCCAATGTCTTATAACTTCACACTCCTTCTGTACTTGCTTTCTAATTTACTTTCCTGTCCATTGTCACCAGCAGTTAAATCCAATCTACATATTTAGTAATTCATAAGTTCTGCTTCAATCCTATTTCTTGCTCAAGAACTACAACCCTTCAACCCCAGGCAATGAATCTAAAAAATGCCTGGCATGAAAGCACTAAAGGTTCTCCACAGTTAAGCCCCATTGTACCTATTATCTCAGCATTAGTACTCCACCATTTTCCTTCACTTCCTATGCATGCTGCATTCATTCTCATGAAGGAAACTTATACTCTTAGCTTTGACAAAAATTTGCGTATCTTTTCTCACTCATAATCTTTCAAAATCCAGTTCAAATTTCTTCTTCTACAGAAAGTTTTCCCACACCAATCTCTACCTTCTCTAACTTCTTTTGTAGTCAATATCTTGACTGCACAATTGCAGTACAATACTGGTATATCATGCATCATTGACTGCACAATTGCAGTACAATACTGGTATATCATGCATCCCTTAGTATGAAAGCTATAATATCTACTACTGTTTTGTTTAGTAATTGAAGTGTCCATATAGTCTCCTCAAGTCACGTGAAATTCCTTATGGCTTATCTCTGTACACTCTAGTTCCTACTGAAGGCCTAGACATATAACATTTAATGATTGACTAGAATATAAATACCTCGCACCAACCACAATGTCACCATTGTCGAGCACACAGCGGCACCATATAGACTGAGCTGGAAGTCGGATAGTTTGAGCACATTCCCCATGTTTCCAGATTCTCAGAGATCTGTCCTCTGCTGTTGTCACAAAGTCTAAAATTAATGAATATAGGAAGTATTAGTTTGAATAAAATTAAGTACATTTATACATACCATCTTTCTAGATACACTGACTTTTTGAAACCCAGAGACTTTCAAAATTACAGTTTTAAATTTCATATGTTTGTCACTTACAACATATACAACTTCAAAATCACATTTTTTATTCATGTCACATCTTACAAAGTGTTTCTTCAGATACCCAAGAACTTTTTACAGCACAACATAAATCTGAATTAATATAAAGATGGCCATACAATTTTCTTCTTTGTAAACAGGAGAAAGATACTTAATGAAATAAATTTACTAAATTATTCAAGTCATAGATAGTAAATTAAGTAATCAGCTCTCCTCCCTCCATCTCACAAATGGGATGGAATAATGCTCAATACAAAACATTAAATAAATAGCATAAAATAATCTTACCTCTACAATTTGGAAAAACGGATATGCTATAAATATAATTTGTATGTCCATAATATACTTCAAGACACTCGCCAGTGATTTGCCACCTTCTAATACTAGCATCATTTGCACAGGAAAGAAATTCTGTTTCACTCAAAATTGCCAAACCTCTTACACAGTCTTCATGCCCTGCATTAAAAAACAATAATGCAAATCAATAAAACTGATAATTTGGCTGATGGCTCTATACATTTTACTAACATTATAAAACATATCAGTGAGTAGTAAAAATTAATTTTCAAGTTAGAGAAATCTTTTTTTTTGTTGAAAGCCTGATAACCAAAATTTGTATTTAAGGTTTAGCAATATTTTTTTATCACCAGTCTTCAGAAGTTATTTTACATTCATCCTACCTTCTCCAAAAACCTCCAGAAATAGTATTTTGACCCCAATAATTTGTTTTCACCTGAAAATTCATTTTTAATTTTTCTTCCCCAACAAGAGTAATTTATAAAATATATAATATTCAAATATAAAAGAAATATATAACAAAGAGTAGCCCATAAATTTAAGAACAAAACATTCTCTGAAGCTTGTGAAGTCAGATTTCCTATGTTCAGTATCTGTTGACTTAAGAGTAGCTATCACAGATTAATAATGACTTGATACATATATATAGACTATATACTGAAGCAGAAACAGAAGGATGTTTAGTCATCATCCACTTTCCATCAAAAGATACTTTTTTTGTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTTTGTGGCCCAAGCTGGAGTGCACTGGCACTACCTCTGCTCACTGCAACCTGTGCCTCCAGGGTTCAAGAGATTCTTGTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGTGTGCATCACCACTCCTGGCGAATTTTTTTGTATTTCTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCATGGCCCCAAGTGATCCACCCACCTCAGCCTCCCGAAAGGCTGGGATTACAGTTGTGAGTCACTGCACCCAGCCAAAAGATACTTTTATCTGTACAAAGGGACTTCTTGCATATTATCTAGGGTAGTTACCAACTTTTAAGGAAAAAATTCAAAAAGGAAAAACAACACCAATTAAAATTAACAGTAAATACTTAAGTACCCTACAAATAAATCAATGATATTACTATTAGATAGCAGATGCATCAGTATTGGCATTATTTAATAGCTGGGGTTTAAAAAGAATACTCACCATAAACCACAACATAAACAAAGCTTGAAATTCGTTATAAACAATGTGCTTCAATATAAAGACACTAATAATGATTTCTTCCATATATGAAGATAACACTGCTGACTGACCATCAGTAAGGCTTATGTTTAGAAGTTTCAGGCTAAAAGTATTAAAATGACAACCAAAAATATAACTATATACCAAAAATTACATACATATATGCAGAAGCACATATGCATATTATATATAGCTTATCAGACAGCTATTTATCAGTCTACATTTGGCTGTTTTA
|
Task1_train_12705
|
Given a variant located on Chromosome 9 and affecting PLAA (phospholipase A2 activating protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
CCAACACTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAAGTTCTTCAAGTTCCTGGTAAGCACAACCACTCCAGTGATTAAACCCTTGTCAAACTAGTACAGTCCCAAAAGTTTAATGACAGGATTCCATTATTAAAACAGGCATCCTTGATTATACTCCTTACTGCAATGGTTATATTCTACTGGGCTTATGCTTCTACTGGATTCAATTTTAAAGGCAAAAACTTAATAACTGTACTCAAACAAAAAGTTCCATATTAGTATTACTAAGTAGTTTTGGATATTATAGAATTTTAGAGTTAGATCTTTAGAGATCATCTCATTCAATTCAATACAGGAATTTGCTCTATACTATCCCTAGCCTAGTGGACCATCTTGTGTTGATTATACTACTTCAAAAGCCTCCAAGCAAACCCACTTCTACACTTATCCCTTCTCAATCTATTCTCTACCATCAGCTAGCAGAAACTTCTCAACACGGAAATCAGATCATGTTGCTCCCTGCTTGAAACTATTTGAAGGCTTCCATCTGCAAACTCCATAACCTGGCTCTTGCCAGCCTCAAAACCTGCCCTCACCTCACAGCTAATTCCCTCCTGTTTGCTCCTCCAGCTGCCTGGAATGCTCTTCCAATTCAATCCTCCCTATTTGCTCTTCCACGACCAGCTCCATCCATCTCATGCTTCAAATGTCAACTTTAAACAAACAACTCCTCAGAGAGGCTTCCTTTAATATATCTCTCCACCTAATTAACTGTATGTTTTCTTCACATGCCAGTTTTTAATTATTTATTGGCTTGTTTTTTAATCTATCTTCCCCATCAGACTGTAAGAAAGCTCCAGAAACACTGGCAACTTGTCTGTCTTTATTCCTCTCCAGTATCCCAAACAAAGAGGAGGCACTCAACAGTTATCAACTGAATTTATGGATGGTGACTCAAATTCTAAAATCTCTAGCAGTGGGAGACCTACTAAATAACAAAATAACTAACCTCAATTTTTCTTTCTCTGAACTGCAATCTGTCTTCTAGGTCTTAAATATCCTGTTACAACCAGCCAAATCAGGGCTGAACCCGTGAACTCGATCAGGACTGATTCCTAACCTTTTTCTTCTTTTTTTTTTTGGTTCGTGAACCCTTCTGATAAATCCTTTGAAGGCAATGGATGCTGCTTCTCCTCAAGAAACAGCACATGCACAGAAACAAAACATCCGAGAGGTTTCACTCCCTCAGGACCAGCACAGACCACAGACTAAAATTCTAACCTGGACGAAAAGAGGATTCACCAGTGCAATTTTTGAGAACTAAAGTCTTCAAAAATTAAATTTTACAGAAGACTACAGAGCATCTTCTTCGAAAAAAAAAAAAAAAGAGGACATTTCAGATGCCTTCAAACTACCTCACTTCGGAGGGTGCAACTGCAATCAGTAAATTTTCAAGTCTAAAAGAAACTTGGGAGATCATCGTCCAAAAACTGAAGGCCCAAAAGGTAGGAGACTCGTCTGTGGTCAAGTTAGCACAACAAGGCAGGTCTTTGGTCCCCCAACCCTGTGCTCTTTCCACTTAAATCCCGATGGTTTCTTACAGAGTTCTAATAGTCTGAGAATTGGAAGGGAGCGGAGAGCAGAGGGAAGGCTGGGGGGAGAGAGAGACGGCAGGACTGACAGGGAAGGGTCACTCTCCTTCCACTCTCCGGGAAGCGTGCAACACAGCCGGGGCAACCCGACTCCCAGCGCTCACCTGTCTGGGGCCCAGAGGCGGGTGGTGCGGTCTCGGGACACGGACACAAAGGCTCCCGGCGGATAGGCGCAGCACACCAGGCCCCGTACGTCCAGCTCGTGGCCCCGGAGCGAGCAGCTCAGCCGGTACCTGGTTGCGCCGCTCGTCATGGCCAGTGTCTGTCTGGCGCCCGGTGCCCAGGCACTGTGCGAGACCAGTCCGCAGGGGCGACTCGGAGAGCGCCGGGCCGCGGCGGGAGAAGAGCCTGCAGGTAAGGGGCGGCCGGAGACCGGAAGAGCCCGAGAGCCGGTACGGAAGGGCGGCTGGGAAGGGGCGCGCCGAGCGGGCCGAGTGACACAGCAAGCCTGACAGGCACTCCGGAATTCATCATCGGCCTCAGCCCTCCATGACGCAGAGTGTGTGCGTCCCAACCGCCGACGCCGATGCGGAGCTGAGCTGGCTTTCCTCCAGGGCTCTGGACTCCCTGCTGAGCAAGAGAGAAAGAGGCCCGCCCTTCCACCAGGACGCCTGACCCTGGGGTCCTTCCCAAACCCGGGTCTCTTCCGACTCCGGGCCCAACAGTTTGTGGTAAATCGGGAAGCGGGCCGGGACTACAATTCCCATAATGCCGCGCCAGCTGGCGTGGACATCCGGCGCGCCGAATCCGGATATTTTAAACCTGAGTCTTTCGCGCTGGGCATGGCGGAATGGCTGAGTGAGGTTGTTTGGTGTCTACTGTTAGGTCATCCTCACTGCTTTTCCCTGAGAATCTCGAGGTTTTTGCAAGTTAACCTTGTTTTTCAATTAAAACGAGAAAGCTTGAGGCCAAATTGGGAACTATTAATCATTGAACTATTCCTCCGTTTCAAGTTATCTGAATCTCCTACTCTCTGTTGTCAAATTTAGCAAATACGGTGGTCCAAGTCAATTTTTTAAAGGTATAACTACTTTTCTCTGGCGGCTTGTTAAAATGTAGATTCTGATTCAGTAGGTCTGAGTTAGAGCTGAGATACGTATTTTTAACAACCCCGCCGCCCACCCACCCGTGGTGCTACTTGCTAGTCATTATCAGACCTTATTGAGTGCCAGGGTAAACATGACCTGTCTCCTTACTTTGTTTTCTTCCCATCCGCTATTCTCTCGCATCCAACTACACTTTTCCACAAACCTTTCTAAATTGCTAAGCCCAATTCACACTTTTCTGACTTCTCCCTTCCTAAAACTCCTACTCTAGGTTTGGAATCACTTTTCCCCTGGTTTGGGAGATCATTCTTGAAATGCTGACTTTTGATACTTCTTTGCTATCATATCCCCTCCCTGGGTGGATTATTTACTACTTGGCTTATTTCTAGAGCTGTATTCCCATATTGTCTTCTCCAAACTCTAGATCTGTATTTCTAGCTATCTGTTAGAAATCTGTACCAATTAGTCCTACTTAAATTATTTCAACATTTCTCTGGCCTTTCTACCCCTTCTCTCCAGCCAATCCTACACATTAAAATATAATTATCTTTCTGAAATATACACTTAATTGTTTTTTCTCTGTTTGACAACCTGTGATGGCTTTCCATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTGTCGCTCTGCTGCCAGGCTGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCTCGCCTCCCGGGTTCAAGCGATTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCGCGCCACCATGCCCAGCTAAATTTTGTGTTTTTAGTAGAAACGAGTTTCACCATGTTGGCCAGGATAGTCTCAATCTCTTGACCTCATAATCTGCCCTCCTCTGCCTTCCAAAGTGCTGGATTATAAGCGTGAGCCACCACGCCTGGCCGGCTTTCCATTCTTATAGTACAGCATTACATAGGGCCTTTCACACAATCTCCCTAATCTGTTTTACTAGATTCATCTCCCTCTGTTATCTCTCTTACTCTAGACATTTCGAATTTGTCACAATTCCCTGAACACATTATGCTGTATGCTCTCCATGTCTCTATGCTCTTTGTACATGCATTTTTTTTTTAAACTTAGAATTCCACTTTCTC
|
CCAACACTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAAGTTCTTCAAGTTCCTGGTAAGCACAACCACTCCAGTGATTAAACCCTTGTCAAACTAGTACAGTCCCAAAAGTTTAATGACAGGATTCCATTATTAAAACAGGCATCCTTGATTATACTCCTTACTGCAATGGTTATATTCTACTGGGCTTATGCTTCTACTGGATTCAATTTTAAAGGCAAAAACTTAATAACTGTACTCAAACAAAAAGTTCCATATTAGTATTACTAAGTAGTTTTGGATATTATAGAATTTTAGAGTTAGATCTTTAGAGATCATCTCATTCAATTCAATACAGGAATTTGCTCTATACTATCCCTAGCCTAGTGGACCATCTTGTGTTGATTATACTACTTCAAAAGCCTCCAAGCAAACCCACTTCTACACTTATCCCTTCTCAATCTATTCTCTACCATCAGCTAGCAGAAACTTCTCAACACGGAAATCAGATCATGTTGCTCCCTGCTTGAAACTATTTGAAGGCTTCCATCTGCAAACTCCATAACCTGGCTCTTGCCAGCCTCAAAACCTGCCCTCACCTCACAGCTAATTCCCTCCTGTTTGCTCCTCCAGCTGCCTGGAATGCTCTTCCAATTCAATCCTCCCTATTTGCTCTTCCACGACCAGCTCCATCCATCTCATGCTTCAAATGTCAACTTTAAACAAACAACTCCTCAGAGAGGCTTCCTTTAATATATCTCTCCACCTAATTAACTGTATGTTTTCTTCACATGCCAGTTTTTAATTATTTATTGGCTTGTTTTTTAATCTATCTTCCCCATCAGACTGTAAGAAAGCTCCAGAAACACTGGCAACTTGTCTGTCTTTATTCCTCTCCAGTATCCCAAACAAAGAGGAGGCACTCAACAGTTATCAACTGAATTTATGGATGGTGACTCAAATTCTAAAATCTCTAGCAGTGGGAGACCTACTAAATAACAAAATAACTAACCTCAATTTTTCTTTCTCTGAACTGCAATCTGTCTTCTAGGTCTTAAATATCCTGTTACAACCAGCCAAATCAGGGCTGAACCCGTGAACTCGATCAGGACTGATTCCTAACCTTTTTCTTCTTTTTTTTTTTGGTTCGTGAACCCTTCTGATAAATCCTTTGAAGGCAATGGATGCTGCTTCTCCTCAAGAAACAGCACATGCACAGAAACAAAACATCCGAGAGGTTTCACTCCCTCAGGACCAGCACAGACCACAGACTAAAATTCTAACCTGGACGAAAAGAGGATTCACCAGTGCAATTTTTGAGAACTAAAGTCTTCAAAAATTAAATTTTACAGAAGACTACAGAGCATCTTCTTCGAAAAAAAAAAAAAAAGAGGACATTTCAGATGCCTTCAAACTACCTCACTTCGGAGGGTGCAACTGCAATCAGTAAATTTTCAAGTCTAAAAGAAACTTGGGAGATCATCGTCCAAAAACTGAAGGCCCAAAAGGTAGGAGACTCGTCTGTGGTCAAGTTAGCACAACAAGGCAGGTCTTTGGTCCCCCAACCCTGTGCTCTTTCCACTTAAATCCCGATGGTTTCTTACAGAGTTCTAATAGTCTGAGAATTGGAAGGGAGCGGAGAGCAGAGGGAAGGCTGGGGGGAGAGAGAGACGGCAGGACTGACAGGGAAGGGTCACTCTCCTTCCACTCTCCGGGAAGCGTGCAACACAGCCGGGGCAACCCGACTCCCAGCGCTCACCTGTCTGGGGCCCAGAGGCGGGTGGTGCGCTCTCGGGACACGGACACAAAGGCTCCCGGCGGATAGGCGCAGCACACCAGGCCCCGTACGTCCAGCTCGTGGCCCCGGAGCGAGCAGCTCAGCCGGTACCTGGTTGCGCCGCTCGTCATGGCCAGTGTCTGTCTGGCGCCCGGTGCCCAGGCACTGTGCGAGACCAGTCCGCAGGGGCGACTCGGAGAGCGCCGGGCCGCGGCGGGAGAAGAGCCTGCAGGTAAGGGGCGGCCGGAGACCGGAAGAGCCCGAGAGCCGGTACGGAAGGGCGGCTGGGAAGGGGCGCGCCGAGCGGGCCGAGTGACACAGCAAGCCTGACAGGCACTCCGGAATTCATCATCGGCCTCAGCCCTCCATGACGCAGAGTGTGTGCGTCCCAACCGCCGACGCCGATGCGGAGCTGAGCTGGCTTTCCTCCAGGGCTCTGGACTCCCTGCTGAGCAAGAGAGAAAGAGGCCCGCCCTTCCACCAGGACGCCTGACCCTGGGGTCCTTCCCAAACCCGGGTCTCTTCCGACTCCGGGCCCAACAGTTTGTGGTAAATCGGGAAGCGGGCCGGGACTACAATTCCCATAATGCCGCGCCAGCTGGCGTGGACATCCGGCGCGCCGAATCCGGATATTTTAAACCTGAGTCTTTCGCGCTGGGCATGGCGGAATGGCTGAGTGAGGTTGTTTGGTGTCTACTGTTAGGTCATCCTCACTGCTTTTCCCTGAGAATCTCGAGGTTTTTGCAAGTTAACCTTGTTTTTCAATTAAAACGAGAAAGCTTGAGGCCAAATTGGGAACTATTAATCATTGAACTATTCCTCCGTTTCAAGTTATCTGAATCTCCTACTCTCTGTTGTCAAATTTAGCAAATACGGTGGTCCAAGTCAATTTTTTAAAGGTATAACTACTTTTCTCTGGCGGCTTGTTAAAATGTAGATTCTGATTCAGTAGGTCTGAGTTAGAGCTGAGATACGTATTTTTAACAACCCCGCCGCCCACCCACCCGTGGTGCTACTTGCTAGTCATTATCAGACCTTATTGAGTGCCAGGGTAAACATGACCTGTCTCCTTACTTTGTTTTCTTCCCATCCGCTATTCTCTCGCATCCAACTACACTTTTCCACAAACCTTTCTAAATTGCTAAGCCCAATTCACACTTTTCTGACTTCTCCCTTCCTAAAACTCCTACTCTAGGTTTGGAATCACTTTTCCCCTGGTTTGGGAGATCATTCTTGAAATGCTGACTTTTGATACTTCTTTGCTATCATATCCCCTCCCTGGGTGGATTATTTACTACTTGGCTTATTTCTAGAGCTGTATTCCCATATTGTCTTCTCCAAACTCTAGATCTGTATTTCTAGCTATCTGTTAGAAATCTGTACCAATTAGTCCTACTTAAATTATTTCAACATTTCTCTGGCCTTTCTACCCCTTCTCTCCAGCCAATCCTACACATTAAAATATAATTATCTTTCTGAAATATACACTTAATTGTTTTTTCTCTGTTTGACAACCTGTGATGGCTTTCCATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTGTCGCTCTGCTGCCAGGCTGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCTCGCCTCCCGGGTTCAAGCGATTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCGCGCCACCATGCCCAGCTAAATTTTGTGTTTTTAGTAGAAACGAGTTTCACCATGTTGGCCAGGATAGTCTCAATCTCTTGACCTCATAATCTGCCCTCCTCTGCCTTCCAAAGTGCTGGATTATAAGCGTGAGCCACCACGCCTGGCCGGCTTTCCATTCTTATAGTACAGCATTACATAGGGCCTTTCACACAATCTCCCTAATCTGTTTTACTAGATTCATCTCCCTCTGTTATCTCTCTTACTCTAGACATTTCGAATTTGTCACAATTCCCTGAACACATTATGCTGTATGCTCTCCATGTCTCTATGCTCTTTGTACATGCATTTTTTTTTTAAACTTAGAATTCCACTTTCTC
|
Task1_train_12706
|
A variant was discovered in gene PLAA (phospholipase A2 activating protein), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
|
CCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAAGTTCTTCAAGTTCCTGGTAAGCACAACCACTCCAGTGATTAAACCCTTGTCAAACTAGTACAGTCCCAAAAGTTTAATGACAGGATTCCATTATTAAAACAGGCATCCTTGATTATACTCCTTACTGCAATGGTTATATTCTACTGGGCTTATGCTTCTACTGGATTCAATTTTAAAGGCAAAAACTTAATAACTGTACTCAAACAAAAAGTTCCATATTAGTATTACTAAGTAGTTTTGGATATTATAGAATTTTAGAGTTAGATCTTTAGAGATCATCTCATTCAATTCAATACAGGAATTTGCTCTATACTATCCCTAGCCTAGTGGACCATCTTGTGTTGATTATACTACTTCAAAAGCCTCCAAGCAAACCCACTTCTACACTTATCCCTTCTCAATCTATTCTCTACCATCAGCTAGCAGAAACTTCTCAACACGGAAATCAGATCATGTTGCTCCCTGCTTGAAACTATTTGAAGGCTTCCATCTGCAAACTCCATAACCTGGCTCTTGCCAGCCTCAAAACCTGCCCTCACCTCACAGCTAATTCCCTCCTGTTTGCTCCTCCAGCTGCCTGGAATGCTCTTCCAATTCAATCCTCCCTATTTGCTCTTCCACGACCAGCTCCATCCATCTCATGCTTCAAATGTCAACTTTAAACAAACAACTCCTCAGAGAGGCTTCCTTTAATATATCTCTCCACCTAATTAACTGTATGTTTTCTTCACATGCCAGTTTTTAATTATTTATTGGCTTGTTTTTTAATCTATCTTCCCCATCAGACTGTAAGAAAGCTCCAGAAACACTGGCAACTTGTCTGTCTTTATTCCTCTCCAGTATCCCAAACAAAGAGGAGGCACTCAACAGTTATCAACTGAATTTATGGATGGTGACTCAAATTCTAAAATCTCTAGCAGTGGGAGACCTACTAAATAACAAAATAACTAACCTCAATTTTTCTTTCTCTGAACTGCAATCTGTCTTCTAGGTCTTAAATATCCTGTTACAACCAGCCAAATCAGGGCTGAACCCGTGAACTCGATCAGGACTGATTCCTAACCTTTTTCTTCTTTTTTTTTTTGGTTCGTGAACCCTTCTGATAAATCCTTTGAAGGCAATGGATGCTGCTTCTCCTCAAGAAACAGCACATGCACAGAAACAAAACATCCGAGAGGTTTCACTCCCTCAGGACCAGCACAGACCACAGACTAAAATTCTAACCTGGACGAAAAGAGGATTCACCAGTGCAATTTTTGAGAACTAAAGTCTTCAAAAATTAAATTTTACAGAAGACTACAGAGCATCTTCTTCGAAAAAAAAAAAAAAAGAGGACATTTCAGATGCCTTCAAACTACCTCACTTCGGAGGGTGCAACTGCAATCAGTAAATTTTCAAGTCTAAAAGAAACTTGGGAGATCATCGTCCAAAAACTGAAGGCCCAAAAGGTAGGAGACTCGTCTGTGGTCAAGTTAGCACAACAAGGCAGGTCTTTGGTCCCCCAACCCTGTGCTCTTTCCACTTAAATCCCGATGGTTTCTTACAGAGTTCTAATAGTCTGAGAATTGGAAGGGAGCGGAGAGCAGAGGGAAGGCTGGGGGGAGAGAGAGACGGCAGGACTGACAGGGAAGGGTCACTCTCCTTCCACTCTCCGGGAAGCGTGCAACACAGCCGGGGCAACCCGACTCCCAGCGCTCACCTGTCTGGGGCCCAGAGGCGGGTGGTGCGGTCTCGGGACACGGACACAAAGGCTCCCGGCGGATAGGCGCAGCACACCAGGCCCCGTACGTCCAGCTCGTGGCCCCGGAGCGAGCAGCTCAGCCGGTACCTGGTTGCGCCGCTCGTCATGGCCAGTGTCTGTCTGGCGCCCGGTGCCCAGGCACTGTGCGAGACCAGTCCGCAGGGGCGACTCGGAGAGCGCCGGGCCGCGGCGGGAGAAGAGCCTGCAGGTAAGGGGCGGCCGGAGACCGGAAGAGCCCGAGAGCCGGTACGGAAGGGCGGCTGGGAAGGGGCGCGCCGAGCGGGCCGAGTGACACAGCAAGCCTGACAGGCACTCCGGAATTCATCATCGGCCTCAGCCCTCCATGACGCAGAGTGTGTGCGTCCCAACCGCCGACGCCGATGCGGAGCTGAGCTGGCTTTCCTCCAGGGCTCTGGACTCCCTGCTGAGCAAGAGAGAAAGAGGCCCGCCCTTCCACCAGGACGCCTGACCCTGGGGTCCTTCCCAAACCCGGGTCTCTTCCGACTCCGGGCCCAACAGTTTGTGGTAAATCGGGAAGCGGGCCGGGACTACAATTCCCATAATGCCGCGCCAGCTGGCGTGGACATCCGGCGCGCCGAATCCGGATATTTTAAACCTGAGTCTTTCGCGCTGGGCATGGCGGAATGGCTGAGTGAGGTTGTTTGGTGTCTACTGTTAGGTCATCCTCACTGCTTTTCCCTGAGAATCTCGAGGTTTTTGCAAGTTAACCTTGTTTTTCAATTAAAACGAGAAAGCTTGAGGCCAAATTGGGAACTATTAATCATTGAACTATTCCTCCGTTTCAAGTTATCTGAATCTCCTACTCTCTGTTGTCAAATTTAGCAAATACGGTGGTCCAAGTCAATTTTTTAAAGGTATAACTACTTTTCTCTGGCGGCTTGTTAAAATGTAGATTCTGATTCAGTAGGTCTGAGTTAGAGCTGAGATACGTATTTTTAACAACCCCGCCGCCCACCCACCCGTGGTGCTACTTGCTAGTCATTATCAGACCTTATTGAGTGCCAGGGTAAACATGACCTGTCTCCTTACTTTGTTTTCTTCCCATCCGCTATTCTCTCGCATCCAACTACACTTTTCCACAAACCTTTCTAAATTGCTAAGCCCAATTCACACTTTTCTGACTTCTCCCTTCCTAAAACTCCTACTCTAGGTTTGGAATCACTTTTCCCCTGGTTTGGGAGATCATTCTTGAAATGCTGACTTTTGATACTTCTTTGCTATCATATCCCCTCCCTGGGTGGATTATTTACTACTTGGCTTATTTCTAGAGCTGTATTCCCATATTGTCTTCTCCAAACTCTAGATCTGTATTTCTAGCTATCTGTTAGAAATCTGTACCAATTAGTCCTACTTAAATTATTTCAACATTTCTCTGGCCTTTCTACCCCTTCTCTCCAGCCAATCCTACACATTAAAATATAATTATCTTTCTGAAATATACACTTAATTGTTTTTTCTCTGTTTGACAACCTGTGATGGCTTTCCATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTGTCGCTCTGCTGCCAGGCTGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCTCGCCTCCCGGGTTCAAGCGATTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCGCGCCACCATGCCCAGCTAAATTTTGTGTTTTTAGTAGAAACGAGTTTCACCATGTTGGCCAGGATAGTCTCAATCTCTTGACCTCATAATCTGCCCTCCTCTGCCTTCCAAAGTGCTGGATTATAAGCGTGAGCCACCACGCCTGGCCGGCTTTCCATTCTTATAGTACAGCATTACATAGGGCCTTTCACACAATCTCCCTAATCTGTTTTACTAGATTCATCTCCCTCTGTTATCTCTCTTACTCTAGACATTTCGAATTTGTCACAATTCCCTGAACACATTATGCTGTATGCTCTCCATGTCTCTATGCTCTTTGTACATGCATTTTTTTTTTAAACTTAGAATTCCACTTTCTCCATCTGTCATAGTTCAACACCAGTTTATCTTCTGTTTTTTTCTAGTTCCTCT
|
CCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCACAGCTTCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAATCAATAGTTCAATGAACAACAAAATCACTTTTCAAATAGAGAATCAGTTCAGCCCAAAGTTCTTCAAGTTCCTGGTAAGCACAACCACTCCAGTGATTAAACCCTTGTCAAACTAGTACAGTCCCAAAAGTTTAATGACAGGATTCCATTATTAAAACAGGCATCCTTGATTATACTCCTTACTGCAATGGTTATATTCTACTGGGCTTATGCTTCTACTGGATTCAATTTTAAAGGCAAAAACTTAATAACTGTACTCAAACAAAAAGTTCCATATTAGTATTACTAAGTAGTTTTGGATATTATAGAATTTTAGAGTTAGATCTTTAGAGATCATCTCATTCAATTCAATACAGGAATTTGCTCTATACTATCCCTAGCCTAGTGGACCATCTTGTGTTGATTATACTACTTCAAAAGCCTCCAAGCAAACCCACTTCTACACTTATCCCTTCTCAATCTATTCTCTACCATCAGCTAGCAGAAACTTCTCAACACGGAAATCAGATCATGTTGCTCCCTGCTTGAAACTATTTGAAGGCTTCCATCTGCAAACTCCATAACCTGGCTCTTGCCAGCCTCAAAACCTGCCCTCACCTCACAGCTAATTCCCTCCTGTTTGCTCCTCCAGCTGCCTGGAATGCTCTTCCAATTCAATCCTCCCTATTTGCTCTTCCACGACCAGCTCCATCCATCTCATGCTTCAAATGTCAACTTTAAACAAACAACTCCTCAGAGAGGCTTCCTTTAATATATCTCTCCACCTAATTAACTGTATGTTTTCTTCACATGCCAGTTTTTAATTATTTATTGGCTTGTTTTTTAATCTATCTTCCCCATCAGACTGTAAGAAAGCTCCAGAAACACTGGCAACTTGTCTGTCTTTATTCCTCTCCAGTATCCCAAACAAAGAGGAGGCACTCAACAGTTATCAACTGAATTTATGGATGGTGACTCAAATTCTAAAATCTCTAGCAGTGGGAGACCTACTAAATAACAAAATAACTAACCTCAATTTTTCTTTCTCTGAACTGCAATCTGTCTTCTAGGTCTTAAATATCCTGTTACAACCAGCCAAATCAGGGCTGAACCCGTGAACTCGATCAGGACTGATTCCTAACCTTTTTCTTCTTTTTTTTTTTGGTTCGTGAACCCTTCTGATAAATCCTTTGAAGGCAATGGATGCTGCTTCTCCTCAAGAAACAGCACATGCACAGAAACAAAACATCCGAGAGGTTTCACTCCCTCAGGACCAGCACAGACCACAGACTAAAATTCTAACCTGGACGAAAAGAGGATTCACCAGTGCAATTTTTGAGAACTAAAGTCTTCAAAAATTAAATTTTACAGAAGACTACAGAGCATCTTCTTCGAAAAAAAAAAAAAAAGAGGACATTTCAGATGCCTTCAAACTACCTCACTTCGGAGGGTGCAACTGCAATCAGTAAATTTTCAAGTCTAAAAGAAACTTGGGAGATCATCGTCCAAAAACTGAAGGCCCAAAAGGTAGGAGACTCGTCTGTGGTCAAGTTAGCACAACAAGGCAGGTCTTTGGTCCCCCAACCCTGTGCTCTTTCCACTTAAATCCCGATGGTTTCTTACAGAGTTCTAATAGTCTGAGAATTGGAAGGGAGCGGAGAGCAGAGGGAAGGCTGGGGGGAGAGAGAGACGGCAGGACTGACAGGGAAGGGTCACTCTCCTTCCACTCTCCGGGAAGCGTGCAACACAGCCGGGGCAACCCGACTCCCAGCGCTCACCTGTCTGGGGCCCAGAGGCGGGTGGTGCGGTCTCGGGACACGGACACAAAGGCTCCCGGCGGATAGGCGCAGCACACCAGGACCCGTACGTCCAGCTCGTGGCCCCGGAGCGAGCAGCTCAGCCGGTACCTGGTTGCGCCGCTCGTCATGGCCAGTGTCTGTCTGGCGCCCGGTGCCCAGGCACTGTGCGAGACCAGTCCGCAGGGGCGACTCGGAGAGCGCCGGGCCGCGGCGGGAGAAGAGCCTGCAGGTAAGGGGCGGCCGGAGACCGGAAGAGCCCGAGAGCCGGTACGGAAGGGCGGCTGGGAAGGGGCGCGCCGAGCGGGCCGAGTGACACAGCAAGCCTGACAGGCACTCCGGAATTCATCATCGGCCTCAGCCCTCCATGACGCAGAGTGTGTGCGTCCCAACCGCCGACGCCGATGCGGAGCTGAGCTGGCTTTCCTCCAGGGCTCTGGACTCCCTGCTGAGCAAGAGAGAAAGAGGCCCGCCCTTCCACCAGGACGCCTGACCCTGGGGTCCTTCCCAAACCCGGGTCTCTTCCGACTCCGGGCCCAACAGTTTGTGGTAAATCGGGAAGCGGGCCGGGACTACAATTCCCATAATGCCGCGCCAGCTGGCGTGGACATCCGGCGCGCCGAATCCGGATATTTTAAACCTGAGTCTTTCGCGCTGGGCATGGCGGAATGGCTGAGTGAGGTTGTTTGGTGTCTACTGTTAGGTCATCCTCACTGCTTTTCCCTGAGAATCTCGAGGTTTTTGCAAGTTAACCTTGTTTTTCAATTAAAACGAGAAAGCTTGAGGCCAAATTGGGAACTATTAATCATTGAACTATTCCTCCGTTTCAAGTTATCTGAATCTCCTACTCTCTGTTGTCAAATTTAGCAAATACGGTGGTCCAAGTCAATTTTTTAAAGGTATAACTACTTTTCTCTGGCGGCTTGTTAAAATGTAGATTCTGATTCAGTAGGTCTGAGTTAGAGCTGAGATACGTATTTTTAACAACCCCGCCGCCCACCCACCCGTGGTGCTACTTGCTAGTCATTATCAGACCTTATTGAGTGCCAGGGTAAACATGACCTGTCTCCTTACTTTGTTTTCTTCCCATCCGCTATTCTCTCGCATCCAACTACACTTTTCCACAAACCTTTCTAAATTGCTAAGCCCAATTCACACTTTTCTGACTTCTCCCTTCCTAAAACTCCTACTCTAGGTTTGGAATCACTTTTCCCCTGGTTTGGGAGATCATTCTTGAAATGCTGACTTTTGATACTTCTTTGCTATCATATCCCCTCCCTGGGTGGATTATTTACTACTTGGCTTATTTCTAGAGCTGTATTCCCATATTGTCTTCTCCAAACTCTAGATCTGTATTTCTAGCTATCTGTTAGAAATCTGTACCAATTAGTCCTACTTAAATTATTTCAACATTTCTCTGGCCTTTCTACCCCTTCTCTCCAGCCAATCCTACACATTAAAATATAATTATCTTTCTGAAATATACACTTAATTGTTTTTTCTCTGTTTGACAACCTGTGATGGCTTTCCATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTGTCGCTCTGCTGCCAGGCTGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCCTCGCCTCCCGGGTTCAAGCGATTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCGCGCCACCATGCCCAGCTAAATTTTGTGTTTTTAGTAGAAACGAGTTTCACCATGTTGGCCAGGATAGTCTCAATCTCTTGACCTCATAATCTGCCCTCCTCTGCCTTCCAAAGTGCTGGATTATAAGCGTGAGCCACCACGCCTGGCCGGCTTTCCATTCTTATAGTACAGCATTACATAGGGCCTTTCACACAATCTCCCTAATCTGTTTTACTAGATTCATCTCCCTCTGTTATCTCTCTTACTCTAGACATTTCGAATTTGTCACAATTCCCTGAACACATTATGCTGTATGCTCTCCATGTCTCTATGCTCTTTGTACATGCATTTTTTTTTTAAACTTAGAATTCCACTTTCTCCATCTGTCATAGTTCAACACCAGTTTATCTTCTGTTTTTTTCTAGTTCCTCT
|
Task1_train_12707
|
A sequence alteration has been identified in IFT74 (intraflagellar transport 74) on Chromosome 9. Is it disease-inducing or harmless?
|
Pathogenic; Spermatogenic failure 58
|
GGGTGACTGAAGACCTCTTCTTGAAGGAGAATGGGAATCCCCGACAAGCCCCCAGAATTGTTAGAAAGAAAGCTTGAAGTCGTAAAGAAAGACGAGTACTCAAACAAAGGATTTCTCAGCAAAGCAAATTTACTTTTGCGCAGTAGGGTGCTTCTTACAGGGCTGCTTGTCATGAGAGCACACTGAAGAAAGTAGAGTAGAAGCTTTTATTCCTAATGTGACTCCTGCCCTCGTGCCCTTTCCCCATTGGCTGGGGTCGGACTGCACAATCTAAACTAGACCCAATTGGCTAAACATTTAAACTTTCTTAGATAAGGTGGGCGCATGATGGGAGAGAGGGGAGAGGAGGAAGGGGTCATCTACAGAGGACTAGAGAGCCAGTCTTTTCCTAAATAAGGAAAGGAATGTGAGCTGGGGCTGTGGCATGCCTGGGCATGTAGTAAAATCAGAAAGAAGAAAAAAGGAGAAGAAAGGCAGGGGGTACCTGGAATTAGAGAATAAGTAGCTGAGCAGGCTATTTGAAGAGAAACCTTGCCATATCTCACATCTTTTATATCTTCTCATGCCTGTATGTATTATATGAACTGACATAAAGGGAGTCTTTTGGCCTTTCCTGAGGTCGTATAGTGTTATGTTGGATTTTGCATACCTGAAGTAGAGAATCTTGTTGAGTAATAATATGAATGCTTGTTTAACAATGTAAGCCCTTTAGTACTTACATGGTCATCTTAGGATGGATTTATATCCATTTGTTTTTACAAGATTAAAGTTTTCTTATTTTTTCCTGATTTTTAAGGGTAATAGATACTCATTGCAATAAGGCGGAAAATACCAAATTGTATAAAGGAGAAAATAAAAATCAACTATAATATCATTATCGATCATCATTACTATTTTTTCACATAGTTTTTAAAATTTTTATTTTTGTCTATATTTTTTGTTTTTTTAAAAGACGGTCTCTCTATGTTCTCCAGGCTGGCCTCGAACTCCTGGGTTTTAAATAATCTTCTCATCTCAGACTGCCAAGTAGCTGGGCCTGTTGGTGCATGCCACCATGCCCAAACTTCCAGCCTTTTTTTGTTTTAAAAAAGTAGAGTTTTGAACCAGGCACAGTGATTCTCACCTGTAATCCCAGCTACTTGGATAGCTGAGGCAGAAGGATCTCTTCAGGCCAGTAGTTCAAGACCAGCCTGAATAACATAGTGAGCCCTTGTCTCTAAAACAAACAAAAACGGAATTATAAATACCATCTTGTAAACTGCCTTTTAATTTTTATTTTATTTACTTATTTTGAGACTGAGTCTCACTCTATCGCCCAAGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCGGCCTTGACCTCCCAGATTCAAGCGACTCTCATGGCTTAGCCTCTCAAGTAGCCGGGATTACAGACGTGTGCCACCACGCCTGGATAACTTTTGTATTTTTAGTAGTGATGGGGTTTTGCCATGTTGTCCAGGCTGGTTTTGAACTCCTGACCTCACATGATCCACCTGCCTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAACTTAAACTGCCCTTTTTATATACTGCAGCTTATTTAACCATTTTCTGCTGTGGACATTTAACTCCTTTCCAGTTTTGAGGTATTATAAATAATGTCTACATATAGAATTTAAAATTTTCCTGAAATGTATTTTTAAATAGTCATAGAACATTAAATGTTAAAGAAATATGTTAATAAATTGAACAACAGTATTTAATAATTCAGACATTTAAAAAATAAGGAAATTTTTACAAATCAAGTAGAATTTTGTTTTTTTAAAAAATTGTCTTTGCAGTTTTACAATAAAAGATGTACAGTGTTTTTTCTGGTTTACTAAAAATGAAATCTTGTTTGTCATTTAGATGCCACCTGGGACAGCAAGACCAGGTTCTCGTGGTTGTCCCATAGGGACTGGTGGAGTTCTGTCTTCTCAAATCAAAGTTGCCCATCGCCCTGTAACACAACAAGGTTTGACTGGAATGAAAACTGGGACGAAAGGTACCTATTTTAAGATAAGTATGACACTTGGGCCTGTGTTTTGTAAGAAATAAATAACTGTGAACAATTTAAAAAAGTAAAAGTTGAGTATATTTTGAACAATAAGTATTACAGTACCATTTTTTTAAATCAGGATTATAGCATGTAAGAATTATTACATGTAATTATGGCATGTAATCAGAATTATGGCATCTAATCGTTATTCTTTGATTCACAAAATTATTGTGATGGTTAAACAACAGAGTGAATATGAAAATACAGTTTGAATTAGAAAGCTATATACAGATATGAGCTATTTCAGTCTTCATTTTTCTGACATGGAGCTGTAGTACAACTTGAAGAACTTTGAAATAGTCTTGGAGAAAAGTTCAAGATTGAAAATTAGATTTTTGGTACTATATAGAAATACTCTGAAATAGTTTAGATAGTTCCTATATTAAAATGACACTTAAAATACTTGTGTATTTATGAGAAGTGAGTCAAGAAATGTTACTTTTTTTCTGATAATTAGCATCTGTTCTAATACTTATGTAAGGAAATGAGGCTAATTTCCTCATTTATATTAATCTAATTTCCTAGATTTATATTAAATCTCTCATTATGCTTCTGCATATGTATTTAGAGAAGCATAAGAATATACTATATATTAGAGTTTAAAATTTAGATCTGTGGTATATATAAACCAAACTATGGTAAACTCCTTTTTCTTTTCTTTTTATCATAGGCAGTGGTCAGTAGCCTGTGGTGAGCTGTTTCAGAGTTTTTCGTTTTCTGTATTTTTGACAGATGATCTATCAGGAATGAAGATATACTGCTAGTACAAAATTAATTATATCATACATGCTACTTTCTATAATACAGTATATCATCCCTTTCAAGAGACTTAAATTTTTTTTTTTTGAGACTTAAATTTTTTCATCTACATTCTAATAACATCTAAATCACTAAATATTAAAAATGAATTGATTATTTAGAAATGTTTGCTTAATGATTATCAGTACCATGAAAAAATATTTCAAAATTACATAGTCATTTAACTAGCCTTTTGAAAGTGGATGCACAGAAATATTTATATGTTTAATAGTATTTTAAAACATCGAGGGTAAAAACATATTAAAATTCTATAGTAAATTTATCAAATGTTTATTTCTGTATTAATTTATCCTTCAAAACAGAACCAATATAATTTAAGATTGTTAGTCTCTACAAGTATACTTCAAAGCCTTTTAAGAGAGAATTCGGAACATTACCACTACACAGAACTGTCTACTGTGACTTTCATTCTTACCTTCTCTAGTGCCCCATTTCCCAGTATAATAAGATACTACCTCTACTTCTCAGCATAGACCTTATAGTTAATACACCTAGTTTTACCTCTCATACTTTGCAGGGCACTTCATCTCTTACAAGGTTTGAGACATTTAACCTAGGAACACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGATCTTGGCTCACTGCAACCTCCGCATCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACATGCCACAATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAGGAATACTTTCTTAGTTCTACTGAAATGTAAGACCATTTCTTAAAAAGTCTCTGAGACAAATGATAAAAAATCATAGTCACTTTCTCACATTGAGTAATGTCTGCAGTGTCCAGTATGACAGCCAGTAGTCAGAAATTTAAATTAGTTCCCCAGTAGCACCAGCCAAATTTTAAGTGCTTCTGTAGTCCCTCTGTCCACTTTATTGGACAGTGTTAATTTAGAATATTTCTGTCACTGCAGAAAGTTACTCTGGACAGCTCTGTTCCAGATTCCCTTAGACTCAATTTTCATTCC
|
GGGTGACTGAAGACCTCTTCTTGAAGGAGAATGGGAATCCCCGACAAGCCCCCAGAATTGTTAGAAAGAAAGCTTGAAGTCGTAAAGAAAGACGAGTACTCAAACAAAGGATTTCTCAGCAAAGCAAATTTACTTTTGCGCAGTAGGGTGCTTCTTACAGGGCTGCTTGTCATGAGAGCACACTGAAGAAAGTAGAGTAGAAGCTTTTATTCCTAATGTGACTCCTGCCCTCGTGCCCTTTCCCCATTGGCTGGGGTCGGACTGCACAATCTAAACTAGACCCAATTGGCTAAACATTTAAACTTTCTTAGATAAGGTGGGCGCATGATGGGAGAGAGGGGAGAGGAGGAAGGGGTCATCTACAGAGGACTAGAGAGCCAGTCTTTTCCTAAATAAGGAAAGGAATGTGAGCTGGGGCTGTGGCATGCCTGGGCATGTAGTAAAATCAGAAAGAAGAAAAAAGGAGAAGAAAGGCAGGGGGTACCTGGAATTAGAGAATAAGTAGCTGAGCAGGCTATTTGAAGAGAAACCTTGCCATATCTCACATCTTTTATATCTTCTCATGCCTGTATGTATTATATGAACTGACATAAAGGGAGTCTTTTGGCCTTTCCTGAGGTCGTATAGTGTTATGTTGGATTTTGCATACCTGAAGTAGAGAATCTTGTTGAGTAATAATATGAATGCTTGTTTAACAATGTAAGCCCTTTAGTACTTACATGGTCATCTTAGGATGGATTTATATCCATTTGTTTTTACAAGATTAAAGTTTTCTTATTTTTTCCTGATTTTTAAGGGTAATAGATACTCATTGCAATAAGGCGGAAAATACCAAATTGTATAAAGGAGAAAATAAAAATCAACTATAATATCATTATCGATCATCATTACTATTTTTTCACATAGTTTTTAAAATTTTTATTTTTGTCTATATTTTTTGTTTTTTTAAAAGACGGTCTCTCTATGTTCTCCAGGCTGGCCTCGAACTCCTGGGTTTTAAATAATCTTCTCATCTCAGACTGCCAAGTAGCTGGGCCTGTTGGTGCATGCCACCATGCCCAAACTTCCAGCCTTTTTTTGTTTTAAAAAAGTAGAGTTTTGAACCAGGCACAGTGATTCTCACCTGTAATCCCAGCTACTTGGATAGCTGAGGCAGAAGGATCTCTTCAGGCCAGTAGTTCAAGACCAGCCTGAATAACATAGTGAGCCCTTGTCTCTAAAACAAACAAAAACGGAATTATAAATACCATCTTGTAAACTGCCTTTTAATTTTTATTTTATTTACTTATTTTGAGACTGAGTCTCACTCTATCGCCCAAGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCGGCCTTGACCTCCCAGATTCAAGCGACTCTCATGGCTTAGCCTCTCAAGTAGCCGGGATTACAGACGTGTGCCACCACGCCTGGATAACTTTTGTATTTTTAGTAGTGATGGGGTTTTGCCATGTTGTCCAGGCTGGTTTTGAACTCCTGACCTCACATGATCCACCTGCCTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAACTTAAACTGCCCTTTTTATATACTGCAGCTTATTTAACCATTTTCTGCTGTGGACATTTAACTCCTTTCCAGTTTTGAGGTATTATAAATAATGTCTACATATAGAATTTAAAATTTTCCTGAAATGTATTTTTAAATAGTCATAGAACATTAAATGTTAAAGAAATATGTTAATAAATTGAACAACAGTATTTAATAATTCAGACATTTAAAAAATAAGGAAATTTTTACAAATCAAGTAGAATTTTGTTTTTTTAAAAAATTGTCTTTGCAGTTTTACAATAAAAGATGTACAGTGTTTTTTCTGGTTTACTAAAAATGAAATCTTGTTTGTCATTTAGATGCCACCTGGGACAGCAAGACCAGGTTCTCGTGGTTGTCCCATAGGGACTGGTGGAGTTCTGTCTTCTCAAATCAAAGTTGCCCATCGCCCTGTAACACAACAAGGTTTGACTGGAATGAAAACTGGGACGAAAAGTACCTATTTTAAGATAAGTATGACACTTGGGCCTGTGTTTTGTAAGAAATAAATAACTGTGAACAATTTAAAAAAGTAAAAGTTGAGTATATTTTGAACAATAAGTATTACAGTACCATTTTTTTAAATCAGGATTATAGCATGTAAGAATTATTACATGTAATTATGGCATGTAATCAGAATTATGGCATCTAATCGTTATTCTTTGATTCACAAAATTATTGTGATGGTTAAACAACAGAGTGAATATGAAAATACAGTTTGAATTAGAAAGCTATATACAGATATGAGCTATTTCAGTCTTCATTTTTCTGACATGGAGCTGTAGTACAACTTGAAGAACTTTGAAATAGTCTTGGAGAAAAGTTCAAGATTGAAAATTAGATTTTTGGTACTATATAGAAATACTCTGAAATAGTTTAGATAGTTCCTATATTAAAATGACACTTAAAATACTTGTGTATTTATGAGAAGTGAGTCAAGAAATGTTACTTTTTTTCTGATAATTAGCATCTGTTCTAATACTTATGTAAGGAAATGAGGCTAATTTCCTCATTTATATTAATCTAATTTCCTAGATTTATATTAAATCTCTCATTATGCTTCTGCATATGTATTTAGAGAAGCATAAGAATATACTATATATTAGAGTTTAAAATTTAGATCTGTGGTATATATAAACCAAACTATGGTAAACTCCTTTTTCTTTTCTTTTTATCATAGGCAGTGGTCAGTAGCCTGTGGTGAGCTGTTTCAGAGTTTTTCGTTTTCTGTATTTTTGACAGATGATCTATCAGGAATGAAGATATACTGCTAGTACAAAATTAATTATATCATACATGCTACTTTCTATAATACAGTATATCATCCCTTTCAAGAGACTTAAATTTTTTTTTTTTGAGACTTAAATTTTTTCATCTACATTCTAATAACATCTAAATCACTAAATATTAAAAATGAATTGATTATTTAGAAATGTTTGCTTAATGATTATCAGTACCATGAAAAAATATTTCAAAATTACATAGTCATTTAACTAGCCTTTTGAAAGTGGATGCACAGAAATATTTATATGTTTAATAGTATTTTAAAACATCGAGGGTAAAAACATATTAAAATTCTATAGTAAATTTATCAAATGTTTATTTCTGTATTAATTTATCCTTCAAAACAGAACCAATATAATTTAAGATTGTTAGTCTCTACAAGTATACTTCAAAGCCTTTTAAGAGAGAATTCGGAACATTACCACTACACAGAACTGTCTACTGTGACTTTCATTCTTACCTTCTCTAGTGCCCCATTTCCCAGTATAATAAGATACTACCTCTACTTCTCAGCATAGACCTTATAGTTAATACACCTAGTTTTACCTCTCATACTTTGCAGGGCACTTCATCTCTTACAAGGTTTGAGACATTTAACCTAGGAACACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGATGTGATCTTGGCTCACTGCAACCTCCGCATCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACATGCCACAATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAGGAATACTTTCTTAGTTCTACTGAAATGTAAGACCATTTCTTAAAAAGTCTCTGAGACAAATGATAAAAAATCATAGTCACTTTCTCACATTGAGTAATGTCTGCAGTGTCCAGTATGACAGCCAGTAGTCAGAAATTTAAATTAGTTCCCCAGTAGCACCAGCCAAATTTTAAGTGCTTCTGTAGTCCCTCTGTCCACTTTATTGGACAGTGTTAATTTAGAATATTTCTGTCACTGCAGAAAGTTACTCTGGACAGCTCTGTTCCAGATTCCCTTAGACTCAATTTTCATTCC
|
Task1_train_12708
|
This sequence change occurs on Chromosome 9, altering TEK (TEK receptor tyrosine kinase). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Multiple cutaneous and mucosal venous malformations
|
ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGCAAAGGAGAATGGCCCAAGCCTTCCAAAACGTGGTAGTGTCTCATCTTCCTACTAGCTAATAAGGGCAAGTCCAAGTACAGGCAGAACCTTCACTTTAAAGATATGGACCAGGAAATTTACTTATAAAGTAAATATTTCCCTTAGGCAAGCCTCATCTTCTCTTTGGCTTTCATTATGAAATGGGAGATAAAAAGTATGACTTTTTAATTTCTTATCCAAACCAGAACAATTTTGAGAGTGAAAAGGGTGCTCTTAGTAAATTATGCAGGAAACTAGGTCTGCCCCTGCCTGCTGAAATGAGACATATGGTCATCCTAGTAGTAAGTCCCCAGAGATGATATCTTGCAACAGAATAAATTGAACATTTTTGGTAAGGAAGGACAGAGGGTAACCAGACCTCAGTGAGATAGGTAATGACGTAATATATTAGACAAGTTTTCCTCACATTTGCCTATTTCCAGTTCCCATTTCTTTCTAGTAAGTCCCTCAATCTTATCACCCCTCGTATGTGTAAGAATTGTATATACCTGTGTGTGTCTTCCATTCCTGTGTACCCTCAGTCTGAAGTCAGAGTTCCTGGCACTTGGTACTGCCTCATTTTTTTTTTCATCTAGGAATTCTAACCAGTAGCAAAGGCCTATAAAAATCACACTTTACCAAGAGGCATCTTATTTGAGTTCTTTTGGTATACTAAAGCCTGAAAATGTATCTAGTTTGTGGGTTCAGGCCCTGTAAAATTAATTTGAACCAGACTTTATCAATTCTGTATATAATGCATTGAGTGCAATGATTCAAATGAGGTGTACCCCATGTGCATGAGTCCCCGAGTTTCCCTTCCACGGAGGACAAGAGGAACTTCACTATCTGACTCCATGCCAGAGCTGGCTCAATTCAGGCTGTCGCTGGAGAAGAAGGGCCAGCAAGGGGGTTGGGAGTGCTGAGCCTGTCAAAATACCGGTGCTTTTTCATGGTAGCACCAGCAGCTATTTGAATTCAGGAGAAAGAGATACTGTGTTGGGTTTGGCTCTAAGCTTCAATCATCTTGTGGCCAGAGTGGACTTAGAGATTCTAAGCCTTACTACGAGAGAGAAAGAGTGTGCACTAAAAATAGAGTAGGATCAAGATAATGCTAAGAAAGCTCTCACTGAGGCGCATCCTGTGGCTGCCCCACATAGGCTCTCCAAGTTAGTTTCCAAACCAGAACTGAACGCTTGCTCATTTCACAACACTGTAGGGAACTCACGTACAACTAACGCAAGGATGGCAAACACATGGAATATGTACTGTTACTCCTTCCTCCGTCACCCTTTACAGACATTGCTAATCAACAGGCTTTTCTGGGGAGGCCCAGAATTGTGCCCGTGCAGCCCTGTGGGCAGCTGGTTTATCAGGGCAGTCCTGTGTGATGAAAACCTATTTCCCTTTCCAGTCTAGAATTAAATACAGTATTTCTTTTTTCATCTGGTGTGGATGCCAACCAGAAGACATTATGCCCCTTAGAATTATGAAAAATCCTGACACAAAATGATGAAATAATTATTTTTCCAGAGGGAAGAACCAGCTGTGCAGTTCAACTCAGGGACTCTGGCCCTAAACAGGAAGGTCAAAAACAACCCAGATCCTACAATTTATCCAGTGCTTGACTGGAATGACATCAAATTTCAAGATGTGATTGGGGAGGGCAATTTTGGCCAAGTTCTTAAGGCGCGCATCAAGAAGGATGGGTTACGGATGGATGCTGCCATCAAAAGAATGAAAGGTCAGTGGTTGACCAGATAGAGTCAGCATTGCGTGAGGGTGTGGAGAAAACTTGATTTCCTGCTCATTCTTTCCTCTATGGTCTTACAAAAAATTGGCATGGTATCAGACATAGCTGTTATTTGCAACTGAAGGTTATGCTTCCTTTGAAGTTGAGCCTGTGATAGTCAGGATATCAATACAAAGGCAGGAGCCATTTAAACATCACTGTCTTGATTCATTGGGATGAGATACTATAGATTCTTGGTCATATATGGCTAACTTTTGCGGAGCATCATTGTTTCTCTTAAAGCAGTGCTTCTCCAAATTGAGTGTGCATCAGAATCACCTGGAAGGCTTGTTTAAAAACAGGCTGTTGGGCCCTACCCCACAATTTCTGACTCAGTCTAGGGCAGGGCCAGAGAATCTGCATTTTTCATTAGTTTTCCAGTGATGCTATCTTGTGGGTTTGGGGACCACATTTTGCAAACCACAGTCTTCATAGGTTAACTGTATATAAGTTCCTGGGGACACTGTTAGAAATGCATTCACTTGGGTTTCTTCTACTCCTTGACTACATCTGAGTTTCTTGGGTAGCATATGAAAATCTGTGTTCTTAAGTGGCTTTCTCAATGGTTCCTCTGTACACTCAGGTTTGCAGAGAAAACCACTGACTTAAGGTCATAAGAACTAAATCTTTTCCAGCTTTGTTCATCTCAAGACTGTTTGGTACCTACCCATCTAATAATATTTGATAATATCTTCAGAGAAAGCAGCATGACTAGTTCACTGGCAAATTAGCTAGCTGTCTTCTCTTCTGCATGAAAGAGCAGTTTGTATAAGACTTGACTGTGAGGCTGCACTATTGATTTTACAAAATACAGGCTTGGAATGTGGTGCATTAAAGCAGAGAATATGATGAACTATTATCATTGTGCAGCTCCATCTTAAGAGCTCTCTAAGGATGCTGGCAGATTTTTCTTTTTTTTTGGACCACACTATTGAATCTATGAATTACCTCTAAATCTTATTAAATCATCTCTGCTTTCTGCATTGTTAGGAAGACTAACAAAACAAAATATTATCTATGATTAGAAACAGCAATATGTTTCTTTAAAAACAATACAAACTACTTGCAAAACAGCCACAAATCCCTTTTCTGTTTTGCTACTTTAGTCACAGGGAGTTTTGGGGAGCAGTGAGGATAGTGAGAGGAGAGGGGTGTAGAATCTTATGAAGGCAGTTTTTATTGGGATCTATTGTGAGCCTGATTTTCTACCTTGTGCCCATGTGAAGAGGGAAAATAGCTTAATAAGGCACCAGGGCAGATAAATCCTGCAGGCAAAGCAGTGCATCCAAAGAAGGGCAGTTACTGAAGTGGACAACCTCACTATAAAGAACTTTAAAAAAATATTCCCAAGATATTGACCCTCCATGAGGCTTCTGTAGTATGAACAGAGCACTTGACTTATGAGTACCATTATTCCCTCATGAGATGATTGTCACAGTTTCTAAGCATGAGCAGCCATGTTTATGGCCACCAGCACCTCACTCCTTTCCTTGCCACCCAATGTGTGTTTTTTTTTTTAAAGCAGCCATAGCTCATTGTCCCTGACTCAAGACTGATCAGTTTATGCACCAACCAATAGCCTTCTCTTCATTCTGGTGCCTGCTGTGTTCTCCCTCTGGTTAAAGTGCTAGTGGAGAGACAAGGCAAAAAGAATAGAAGCAGATGCAACTCAGTTTCCTGATTCCCATGCAACTTCCATAAGATACCATTTGGATTTGATTTGTTTAGCTCAATCAACCAGATTGAGACTGGTTTGTAAAAAATAAGTTACAGTTAGTGAACAAAGAGGCATGCATTATTGGTGATGTTTCATGGAAACTTTGGTTCTATTCCTCAGTTGTCTCTGGATGGTAGATTTAGCTGGAAGAGCTAAAATCTAAAAGATGATACAGCTCCACCTCTACCAAGTCATTTACCTGAGGATCTGGGAGCTTCAACAAGAAAACTTTAGAGTAGTGGTTCTCATCCA
|
ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGCAAAGGAGAATGGCCCAAGCCTTCCAAAACGTGGTAGTGTCTCATCTTCCTACTAGCTAATAAGGGCAAGTCCAAGTACAGGCAGAACCTTCACTTTAAAGATATGGACCAGGAAATTTACTTATAAAGTAAATATTTCCCTTAGGCAAGCCTCATCTTCTCTTTGGCTTTCATTATGAAATGGGAGATAAAAAGTATGACTTTTTAATTTCTTATCCAAACCAGAACAATTTTGAGAGTGAAAAGGGTGCTCTTAGTAAATTATGCAGGAAACTAGGTCTGCCCCTGCCTGCTGAAATGAGACATATGGTCATCCTAGTAGTAAGTCCCCAGAGATGATATCTTGCAACAGAATAAATTGAACATTTTTGGTAAGGAAGGACAGAGGGTAACCAGACCTCAGTGAGATAGGTAATGACGTAATATATTAGACAAGTTTTCCTCACATTTGCCTATTTCCAGTTCCCATTTCTTTCTAGTAAGTCCCTCAATCTTATCACCCCTCGTATGTGTAAGAATTGTATATACCTGTGTGTGTCTTCCATTCCTGTGTACCCTCAGTCTGAAGTCAGAGTTCCTGGCACTTGGTACTGCCTCATTTTTTTTTTCATCTAGGAATTCTAACCAGTAGCAAAGGCCTATAAAAATCACACTTTACCAAGAGGCATCTTATTTGAGTTCTTTTGGTATACTAAAGCCTGAAAATGTATCTAGTTTGTGGGTTCAGGCCCTGTAAAATTAATTTGAACCAGACTTTATCAATTCTGTATATAATGCATTGAGTGCAATGATTCAAATGAGGTGTACCCCATGTGCATGAGTCCCCGAGTTTCCCTTCCACGGAGGACAAGAGGAACTTCACTATCTGACTCCATGCCAGAGCTGGCTCAATTCAGGCTGTCGCTGGAGAAGAAGGGCCAGCAAGGGGGTTGGGAGTGCTGAGCCTGTCAAAATACCGGTGCTTTTTCATGGTAGCACCAGCAGCTATTTGAATTCAGGAGAAAGAGATACTGTGTTGGGTTTGGCTCTAAGCTTCAATCATCTTGTGGCCAGAGTGGACTTAGAGATTCTAAGCCTTACTACGAGAGAGAAAGAGTGTGCACTAAAAATAGAGTAGGATCAAGATAATGCTAAGAAAGCTCTCACTGAGGCGCATCCTGTGGCTGCCCCACATAGGCTCTCCAAGTTAGTTTCCAAACCAGAACTGAACGCTTGCTCATTTCACAACACTGTAGGGAACTCACGTACAACTAACGCAAGGATGGCAAACACATGGAATATGTACTGTTACTCCTTCCTCCGTCACCCTTTACAGACATTGCTAATCAACAGGCTTTTCTGGGGAGGCCCAGAATTGTGCCCGTGCAGCCCTGTGGGCAGCTGGTTTATCAGGGCAGTCCTGTGTGATGAAAACCTATTTCCCTTTCCAGTCTAGAATTAAATACAGTATTTCTTTTTTCATCTGGTGTGGATGCCAACCAGAAGACATTATGCCCCTTAGAATTATGAAAAATCCTGACACAAAATGATGAAATAATTATTTTTCCAGAGGGAAGAACCAGCTGTGCAGTTCAACTCAGGGACTCTGGCCCTAAACAGGAAGGTCAAAAACAACCCAGATCCTACAATTTATCCAGTGCTTGACTGGAATGACATCAAATTTCAAGATGTGATTGGGGAGGGCAATTTTGGCCAAGTTCTTAAGGCGCGCATCAAGAAGGATGGGTTATGGATGGATGCTGCCATCAAAAGAATGAAAGGTCAGTGGTTGACCAGATAGAGTCAGCATTGCGTGAGGGTGTGGAGAAAACTTGATTTCCTGCTCATTCTTTCCTCTATGGTCTTACAAAAAATTGGCATGGTATCAGACATAGCTGTTATTTGCAACTGAAGGTTATGCTTCCTTTGAAGTTGAGCCTGTGATAGTCAGGATATCAATACAAAGGCAGGAGCCATTTAAACATCACTGTCTTGATTCATTGGGATGAGATACTATAGATTCTTGGTCATATATGGCTAACTTTTGCGGAGCATCATTGTTTCTCTTAAAGCAGTGCTTCTCCAAATTGAGTGTGCATCAGAATCACCTGGAAGGCTTGTTTAAAAACAGGCTGTTGGGCCCTACCCCACAATTTCTGACTCAGTCTAGGGCAGGGCCAGAGAATCTGCATTTTTCATTAGTTTTCCAGTGATGCTATCTTGTGGGTTTGGGGACCACATTTTGCAAACCACAGTCTTCATAGGTTAACTGTATATAAGTTCCTGGGGACACTGTTAGAAATGCATTCACTTGGGTTTCTTCTACTCCTTGACTACATCTGAGTTTCTTGGGTAGCATATGAAAATCTGTGTTCTTAAGTGGCTTTCTCAATGGTTCCTCTGTACACTCAGGTTTGCAGAGAAAACCACTGACTTAAGGTCATAAGAACTAAATCTTTTCCAGCTTTGTTCATCTCAAGACTGTTTGGTACCTACCCATCTAATAATATTTGATAATATCTTCAGAGAAAGCAGCATGACTAGTTCACTGGCAAATTAGCTAGCTGTCTTCTCTTCTGCATGAAAGAGCAGTTTGTATAAGACTTGACTGTGAGGCTGCACTATTGATTTTACAAAATACAGGCTTGGAATGTGGTGCATTAAAGCAGAGAATATGATGAACTATTATCATTGTGCAGCTCCATCTTAAGAGCTCTCTAAGGATGCTGGCAGATTTTTCTTTTTTTTTGGACCACACTATTGAATCTATGAATTACCTCTAAATCTTATTAAATCATCTCTGCTTTCTGCATTGTTAGGAAGACTAACAAAACAAAATATTATCTATGATTAGAAACAGCAATATGTTTCTTTAAAAACAATACAAACTACTTGCAAAACAGCCACAAATCCCTTTTCTGTTTTGCTACTTTAGTCACAGGGAGTTTTGGGGAGCAGTGAGGATAGTGAGAGGAGAGGGGTGTAGAATCTTATGAAGGCAGTTTTTATTGGGATCTATTGTGAGCCTGATTTTCTACCTTGTGCCCATGTGAAGAGGGAAAATAGCTTAATAAGGCACCAGGGCAGATAAATCCTGCAGGCAAAGCAGTGCATCCAAAGAAGGGCAGTTACTGAAGTGGACAACCTCACTATAAAGAACTTTAAAAAAATATTCCCAAGATATTGACCCTCCATGAGGCTTCTGTAGTATGAACAGAGCACTTGACTTATGAGTACCATTATTCCCTCATGAGATGATTGTCACAGTTTCTAAGCATGAGCAGCCATGTTTATGGCCACCAGCACCTCACTCCTTTCCTTGCCACCCAATGTGTGTTTTTTTTTTTAAAGCAGCCATAGCTCATTGTCCCTGACTCAAGACTGATCAGTTTATGCACCAACCAATAGCCTTCTCTTCATTCTGGTGCCTGCTGTGTTCTCCCTCTGGTTAAAGTGCTAGTGGAGAGACAAGGCAAAAAGAATAGAAGCAGATGCAACTCAGTTTCCTGATTCCCATGCAACTTCCATAAGATACCATTTGGATTTGATTTGTTTAGCTCAATCAACCAGATTGAGACTGGTTTGTAAAAAATAAGTTACAGTTAGTGAACAAAGAGGCATGCATTATTGGTGATGTTTCATGGAAACTTTGGTTCTATTCCTCAGTTGTCTCTGGATGGTAGATTTAGCTGGAAGAGCTAAAATCTAAAAGATGATACAGCTCCACCTCTACCAAGTCATTTACCTGAGGATCTGGGAGCTTCAACAAGAAAACTTTAGAGTAGTGGTTCTCATCCA
|
Task1_train_12709
|
Consider this mutation in TEK (TEK receptor tyrosine kinase) on Chromosome 9. Is this a benign change or a disease-causing variant?
|
Pathogenic; Segmental undergrowth associated with venous malformation without capillary component
|
ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGCAAAGGAGAATGGCCCAAGCCTTCCAAAACGTGGTAGTGTCTCATCTTCCTACTAGCTAATAAGGGCAAGTCCAAGTACAGGCAGAACCTTCACTTTAAAGATATGGACCAGGAAATTTACTTATAAAGTAAATATTTCCCTTAGGCAAGCCTCATCTTCTCTTTGGCTTTCATTATGAAATGGGAGATAAAAAGTATGACTTTTTAATTTCTTATCCAAACCAGAACAATTTTGAGAGTGAAAAGGGTGCTCTTAGTAAATTATGCAGGAAACTAGGTCTGCCCCTGCCTGCTGAAATGAGACATATGGTCATCCTAGTAGTAAGTCCCCAGAGATGATATCTTGCAACAGAATAAATTGAACATTTTTGGTAAGGAAGGACAGAGGGTAACCAGACCTCAGTGAGATAGGTAATGACGTAATATATTAGACAAGTTTTCCTCACATTTGCCTATTTCCAGTTCCCATTTCTTTCTAGTAAGTCCCTCAATCTTATCACCCCTCGTATGTGTAAGAATTGTATATACCTGTGTGTGTCTTCCATTCCTGTGTACCCTCAGTCTGAAGTCAGAGTTCCTGGCACTTGGTACTGCCTCATTTTTTTTTTCATCTAGGAATTCTAACCAGTAGCAAAGGCCTATAAAAATCACACTTTACCAAGAGGCATCTTATTTGAGTTCTTTTGGTATACTAAAGCCTGAAAATGTATCTAGTTTGTGGGTTCAGGCCCTGTAAAATTAATTTGAACCAGACTTTATCAATTCTGTATATAATGCATTGAGTGCAATGATTCAAATGAGGTGTACCCCATGTGCATGAGTCCCCGAGTTTCCCTTCCACGGAGGACAAGAGGAACTTCACTATCTGACTCCATGCCAGAGCTGGCTCAATTCAGGCTGTCGCTGGAGAAGAAGGGCCAGCAAGGGGGTTGGGAGTGCTGAGCCTGTCAAAATACCGGTGCTTTTTCATGGTAGCACCAGCAGCTATTTGAATTCAGGAGAAAGAGATACTGTGTTGGGTTTGGCTCTAAGCTTCAATCATCTTGTGGCCAGAGTGGACTTAGAGATTCTAAGCCTTACTACGAGAGAGAAAGAGTGTGCACTAAAAATAGAGTAGGATCAAGATAATGCTAAGAAAGCTCTCACTGAGGCGCATCCTGTGGCTGCCCCACATAGGCTCTCCAAGTTAGTTTCCAAACCAGAACTGAACGCTTGCTCATTTCACAACACTGTAGGGAACTCACGTACAACTAACGCAAGGATGGCAAACACATGGAATATGTACTGTTACTCCTTCCTCCGTCACCCTTTACAGACATTGCTAATCAACAGGCTTTTCTGGGGAGGCCCAGAATTGTGCCCGTGCAGCCCTGTGGGCAGCTGGTTTATCAGGGCAGTCCTGTGTGATGAAAACCTATTTCCCTTTCCAGTCTAGAATTAAATACAGTATTTCTTTTTTCATCTGGTGTGGATGCCAACCAGAAGACATTATGCCCCTTAGAATTATGAAAAATCCTGACACAAAATGATGAAATAATTATTTTTCCAGAGGGAAGAACCAGCTGTGCAGTTCAACTCAGGGACTCTGGCCCTAAACAGGAAGGTCAAAAACAACCCAGATCCTACAATTTATCCAGTGCTTGACTGGAATGACATCAAATTTCAAGATGTGATTGGGGAGGGCAATTTTGGCCAAGTTCTTAAGGCGCGCATCAAGAAGGATGGGTTACGGATGGATGCTGCCATCAAAAGAATGAAAGGTCAGTGGTTGACCAGATAGAGTCAGCATTGCGTGAGGGTGTGGAGAAAACTTGATTTCCTGCTCATTCTTTCCTCTATGGTCTTACAAAAAATTGGCATGGTATCAGACATAGCTGTTATTTGCAACTGAAGGTTATGCTTCCTTTGAAGTTGAGCCTGTGATAGTCAGGATATCAATACAAAGGCAGGAGCCATTTAAACATCACTGTCTTGATTCATTGGGATGAGATACTATAGATTCTTGGTCATATATGGCTAACTTTTGCGGAGCATCATTGTTTCTCTTAAAGCAGTGCTTCTCCAAATTGAGTGTGCATCAGAATCACCTGGAAGGCTTGTTTAAAAACAGGCTGTTGGGCCCTACCCCACAATTTCTGACTCAGTCTAGGGCAGGGCCAGAGAATCTGCATTTTTCATTAGTTTTCCAGTGATGCTATCTTGTGGGTTTGGGGACCACATTTTGCAAACCACAGTCTTCATAGGTTAACTGTATATAAGTTCCTGGGGACACTGTTAGAAATGCATTCACTTGGGTTTCTTCTACTCCTTGACTACATCTGAGTTTCTTGGGTAGCATATGAAAATCTGTGTTCTTAAGTGGCTTTCTCAATGGTTCCTCTGTACACTCAGGTTTGCAGAGAAAACCACTGACTTAAGGTCATAAGAACTAAATCTTTTCCAGCTTTGTTCATCTCAAGACTGTTTGGTACCTACCCATCTAATAATATTTGATAATATCTTCAGAGAAAGCAGCATGACTAGTTCACTGGCAAATTAGCTAGCTGTCTTCTCTTCTGCATGAAAGAGCAGTTTGTATAAGACTTGACTGTGAGGCTGCACTATTGATTTTACAAAATACAGGCTTGGAATGTGGTGCATTAAAGCAGAGAATATGATGAACTATTATCATTGTGCAGCTCCATCTTAAGAGCTCTCTAAGGATGCTGGCAGATTTTTCTTTTTTTTTGGACCACACTATTGAATCTATGAATTACCTCTAAATCTTATTAAATCATCTCTGCTTTCTGCATTGTTAGGAAGACTAACAAAACAAAATATTATCTATGATTAGAAACAGCAATATGTTTCTTTAAAAACAATACAAACTACTTGCAAAACAGCCACAAATCCCTTTTCTGTTTTGCTACTTTAGTCACAGGGAGTTTTGGGGAGCAGTGAGGATAGTGAGAGGAGAGGGGTGTAGAATCTTATGAAGGCAGTTTTTATTGGGATCTATTGTGAGCCTGATTTTCTACCTTGTGCCCATGTGAAGAGGGAAAATAGCTTAATAAGGCACCAGGGCAGATAAATCCTGCAGGCAAAGCAGTGCATCCAAAGAAGGGCAGTTACTGAAGTGGACAACCTCACTATAAAGAACTTTAAAAAAATATTCCCAAGATATTGACCCTCCATGAGGCTTCTGTAGTATGAACAGAGCACTTGACTTATGAGTACCATTATTCCCTCATGAGATGATTGTCACAGTTTCTAAGCATGAGCAGCCATGTTTATGGCCACCAGCACCTCACTCCTTTCCTTGCCACCCAATGTGTGTTTTTTTTTTTAAAGCAGCCATAGCTCATTGTCCCTGACTCAAGACTGATCAGTTTATGCACCAACCAATAGCCTTCTCTTCATTCTGGTGCCTGCTGTGTTCTCCCTCTGGTTAAAGTGCTAGTGGAGAGACAAGGCAAAAAGAATAGAAGCAGATGCAACTCAGTTTCCTGATTCCCATGCAACTTCCATAAGATACCATTTGGATTTGATTTGTTTAGCTCAATCAACCAGATTGAGACTGGTTTGTAAAAAATAAGTTACAGTTAGTGAACAAAGAGGCATGCATTATTGGTGATGTTTCATGGAAACTTTGGTTCTATTCCTCAGTTGTCTCTGGATGGTAGATTTAGCTGGAAGAGCTAAAATCTAAAAGATGATACAGCTCCACCTCTACCAAGTCATTTACCTGAGGATCTGGGAGCTTCAACAAGAAAACTTTAGAGTAGTGGTTCTCATCCA
|
ATTACAACCCTGTGAGTCAGACTCATCTCCACTGAGTTTGGAATATAAATGAGTAGCCCGAGGTCATATAGTGGTTAGGTGGCAGGGTTAAGGCTGCTGTTAAGTTCCCATTACACTGTGTCTTCTCCCACATACGGTGTGGGTCTGTTTCTCTATGTAAACTAAACTACCTGCTTCACCTCTGTCTTCCTGCACAGCACCAGCGGACCTCGGAGGGGGGAAGATGCTGCTTATAGCCATCCTTGGCTCTGCTGGAATGACCTGCCTGACTGTGCTGTTGGCCTTTCTGATCATATTGCAATTGAAGAGGGCAAATGTGCAAAGGAGAATGGCCCAAGCCTTCCAAAACGTGGTAGTGTCTCATCTTCCTACTAGCTAATAAGGGCAAGTCCAAGTACAGGCAGAACCTTCACTTTAAAGATATGGACCAGGAAATTTACTTATAAAGTAAATATTTCCCTTAGGCAAGCCTCATCTTCTCTTTGGCTTTCATTATGAAATGGGAGATAAAAAGTATGACTTTTTAATTTCTTATCCAAACCAGAACAATTTTGAGAGTGAAAAGGGTGCTCTTAGTAAATTATGCAGGAAACTAGGTCTGCCCCTGCCTGCTGAAATGAGACATATGGTCATCCTAGTAGTAAGTCCCCAGAGATGATATCTTGCAACAGAATAAATTGAACATTTTTGGTAAGGAAGGACAGAGGGTAACCAGACCTCAGTGAGATAGGTAATGACGTAATATATTAGACAAGTTTTCCTCACATTTGCCTATTTCCAGTTCCCATTTCTTTCTAGTAAGTCCCTCAATCTTATCACCCCTCGTATGTGTAAGAATTGTATATACCTGTGTGTGTCTTCCATTCCTGTGTACCCTCAGTCTGAAGTCAGAGTTCCTGGCACTTGGTACTGCCTCATTTTTTTTTTCATCTAGGAATTCTAACCAGTAGCAAAGGCCTATAAAAATCACACTTTACCAAGAGGCATCTTATTTGAGTTCTTTTGGTATACTAAAGCCTGAAAATGTATCTAGTTTGTGGGTTCAGGCCCTGTAAAATTAATTTGAACCAGACTTTATCAATTCTGTATATAATGCATTGAGTGCAATGATTCAAATGAGGTGTACCCCATGTGCATGAGTCCCCGAGTTTCCCTTCCACGGAGGACAAGAGGAACTTCACTATCTGACTCCATGCCAGAGCTGGCTCAATTCAGGCTGTCGCTGGAGAAGAAGGGCCAGCAAGGGGGTTGGGAGTGCTGAGCCTGTCAAAATACCGGTGCTTTTTCATGGTAGCACCAGCAGCTATTTGAATTCAGGAGAAAGAGATACTGTGTTGGGTTTGGCTCTAAGCTTCAATCATCTTGTGGCCAGAGTGGACTTAGAGATTCTAAGCCTTACTACGAGAGAGAAAGAGTGTGCACTAAAAATAGAGTAGGATCAAGATAATGCTAAGAAAGCTCTCACTGAGGCGCATCCTGTGGCTGCCCCACATAGGCTCTCCAAGTTAGTTTCCAAACCAGAACTGAACGCTTGCTCATTTCACAACACTGTAGGGAACTCACGTACAACTAACGCAAGGATGGCAAACACATGGAATATGTACTGTTACTCCTTCCTCCGTCACCCTTTACAGACATTGCTAATCAACAGGCTTTTCTGGGGAGGCCCAGAATTGTGCCCGTGCAGCCCTGTGGGCAGCTGGTTTATCAGGGCAGTCCTGTGTGATGAAAACCTATTTCCCTTTCCAGTCTAGAATTAAATACAGTATTTCTTTTTTCATCTGGTGTGGATGCCAACCAGAAGACATTATGCCCCTTAGAATTATGAAAAATCCTGACACAAAATGATGAAATAATTATTTTTCCAGAGGGAAGAACCAGCTGTGCAGTTCAACTCAGGGACTCTGGCCCTAAACAGGAAGGTCAAAAACAACCCAGATCCTACAATTTATCCAGTGCTTGACTGGAATGACATCAAATTTCAAGATGTGATTGGGGAGGGCAATTTTGGCCAAGTTCTTAAGGCGCGCATCAAGAAGGATGGGTTATGGATGGATGCTGCCATCAAAAGAATGAAAGGTCAGTGGTTGACCAGATAGAGTCAGCATTGCGTGAGGGTGTGGAGAAAACTTGATTTCCTGCTCATTCTTTCCTCTATGGTCTTACAAAAAATTGGCATGGTATCAGACATAGCTGTTATTTGCAACTGAAGGTTATGCTTCCTTTGAAGTTGAGCCTGTGATAGTCAGGATATCAATACAAAGGCAGGAGCCATTTAAACATCACTGTCTTGATTCATTGGGATGAGATACTATAGATTCTTGGTCATATATGGCTAACTTTTGCGGAGCATCATTGTTTCTCTTAAAGCAGTGCTTCTCCAAATTGAGTGTGCATCAGAATCACCTGGAAGGCTTGTTTAAAAACAGGCTGTTGGGCCCTACCCCACAATTTCTGACTCAGTCTAGGGCAGGGCCAGAGAATCTGCATTTTTCATTAGTTTTCCAGTGATGCTATCTTGTGGGTTTGGGGACCACATTTTGCAAACCACAGTCTTCATAGGTTAACTGTATATAAGTTCCTGGGGACACTGTTAGAAATGCATTCACTTGGGTTTCTTCTACTCCTTGACTACATCTGAGTTTCTTGGGTAGCATATGAAAATCTGTGTTCTTAAGTGGCTTTCTCAATGGTTCCTCTGTACACTCAGGTTTGCAGAGAAAACCACTGACTTAAGGTCATAAGAACTAAATCTTTTCCAGCTTTGTTCATCTCAAGACTGTTTGGTACCTACCCATCTAATAATATTTGATAATATCTTCAGAGAAAGCAGCATGACTAGTTCACTGGCAAATTAGCTAGCTGTCTTCTCTTCTGCATGAAAGAGCAGTTTGTATAAGACTTGACTGTGAGGCTGCACTATTGATTTTACAAAATACAGGCTTGGAATGTGGTGCATTAAAGCAGAGAATATGATGAACTATTATCATTGTGCAGCTCCATCTTAAGAGCTCTCTAAGGATGCTGGCAGATTTTTCTTTTTTTTTGGACCACACTATTGAATCTATGAATTACCTCTAAATCTTATTAAATCATCTCTGCTTTCTGCATTGTTAGGAAGACTAACAAAACAAAATATTATCTATGATTAGAAACAGCAATATGTTTCTTTAAAAACAATACAAACTACTTGCAAAACAGCCACAAATCCCTTTTCTGTTTTGCTACTTTAGTCACAGGGAGTTTTGGGGAGCAGTGAGGATAGTGAGAGGAGAGGGGTGTAGAATCTTATGAAGGCAGTTTTTATTGGGATCTATTGTGAGCCTGATTTTCTACCTTGTGCCCATGTGAAGAGGGAAAATAGCTTAATAAGGCACCAGGGCAGATAAATCCTGCAGGCAAAGCAGTGCATCCAAAGAAGGGCAGTTACTGAAGTGGACAACCTCACTATAAAGAACTTTAAAAAAATATTCCCAAGATATTGACCCTCCATGAGGCTTCTGTAGTATGAACAGAGCACTTGACTTATGAGTACCATTATTCCCTCATGAGATGATTGTCACAGTTTCTAAGCATGAGCAGCCATGTTTATGGCCACCAGCACCTCACTCCTTTCCTTGCCACCCAATGTGTGTTTTTTTTTTTAAAGCAGCCATAGCTCATTGTCCCTGACTCAAGACTGATCAGTTTATGCACCAACCAATAGCCTTCTCTTCATTCTGGTGCCTGCTGTGTTCTCCCTCTGGTTAAAGTGCTAGTGGAGAGACAAGGCAAAAAGAATAGAAGCAGATGCAACTCAGTTTCCTGATTCCCATGCAACTTCCATAAGATACCATTTGGATTTGATTTGTTTAGCTCAATCAACCAGATTGAGACTGGTTTGTAAAAAATAAGTTACAGTTAGTGAACAAAGAGGCATGCATTATTGGTGATGTTTCATGGAAACTTTGGTTCTATTCCTCAGTTGTCTCTGGATGGTAGATTTAGCTGGAAGAGCTAAAATCTAAAAGATGATACAGCTCCACCTCTACCAAGTCATTTACCTGAGGATCTGGGAGCTTCAACAAGAAAACTTTAGAGTAGTGGTTCTCATCCA
|
Task1_train_12710
|
Given this variant in gene TEK (TEK receptor tyrosine kinase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Vascular malformation
|
ATCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAG
|
ATCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCCACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAG
|
Task1_train_12711
|
Chromosome 9 houses a mutation in gene TEK (TEK receptor tyrosine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Blue rubber bleb nevus
|
TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGG
|
TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTGCTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGG
|
Task1_train_12712
|
A variant has been detected on Chromosome 9 in TEK (TEK receptor tyrosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Ventricular septal defect
|
TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGG
|
TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTGCTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGG
|
Task1_train_12713
|
The following genetic variant occurs in TEK (TEK receptor tyrosine kinase) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Multiple cutaneous and mucosal venous malformations
|
TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGG
|
TCTTGAGGTTACGTTTACTTCATCTGGTTGCAGTTGGTCTTTAGGGAGAGAATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTGCTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGG
|
Task1_train_12714
|
This sequence variant lies in TEK (TEK receptor tyrosine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Vascular malformation
|
AATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGGGTGTGAAGCTGGGTCCCTTTGGCTCTTCGAGGGCCCTGCATGCTTATCAA
|
AATAAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCTTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGGGTGTGAAGCTGGGTCCCTTTGGCTCTTCGAGGGCCCTGCATGCTTATCAA
|
Task1_train_12715
|
Given a variant located on Chromosome 9 and affecting TEK (TEK receptor tyrosine kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Vascular malformation
|
AAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGGGTGTGAAGCTGGGTCCCTTTGGCTCTTCGAGGGCCCTGCATGCTTATCAACAT
|
AAACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTTGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGGGTGTGAAGCTGGGTCCCTTTGGCTCTTCGAGGGCCCTGCATGCTTATCAACAT
|
Task1_train_12716
|
This gene mutation involves TEK (TEK receptor tyrosine kinase) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; not provided
|
AACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCGCAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGGGTGTGAAGCTGGGTCCCTTTGGCTCTTCGAGGGCCCTGCATGCTTATCAACATC
|
AACCATGATATTAATGCAGCTTCCTTCTTGGGAAAAAAAACCACAACAACAAAAATATATCCCTTAAAATTTTGCTTCGTCATCACATTAGCACATAGCTGGCTCTTAAAATTTTAAGATAGGCCGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAAGATGTCGAGACCATCCTGGCCAACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTAGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTTCAGCCCAGGCGACAGAGAGAGACTCAGTTTAAAAAAAAATATATATATATATGAATATATATGTATGAATATATGTATGTGTATATATATATATGAATATATGTATATATATGAATATATGTGTATATATATGAATATATGTGCATATATATGTATTTAAGGTAAATTACCTTTATCTTTATTAATAAATACATATTTAAATTATTTTAAAATAATTCAGTAAAGATGTGAGAAAGCACATGTATACCATAATTTAGGTCTAACTTTCATTATAGTGCAACAGGTTTCAATATTACTTTTCTTTTTTGCTAGAATTTCAATTTCTTAGAAGATCTTTCAAGCTTTTTTTTTTTTTTTTTTTTTTGAGATAGATAGATAGATAGATAGGGTCTCACTCTGTTGCCCAGTCTGGAGTGCAGTAGCACGATGTCAGCCCACTGCAACCTCCCCATCCCTGGGCTCAAGCAGTCTTCCCACTTCAGCCTAAGTACTCCCAAGTAGCTGGGACTACAGGGATGCACCACCATGCTTGGCTAATTTTTATTTTATTTTTATTTTTTGTAGAGATTAGGTCTCAGTATACTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCATCTGCCTTGGCCTCCCAGAGTGCCGGGATTACAAGTGTGAGCCACTGCACTGGGCTTCAAGTTCTAATTCATACATCATTTTAAAAACATGGTTTGCCCAAAAAATTCTTCTTTAAAAAAAACCAGTAAAATAACTTTAACTTTACATTTTTAGTAGGTATAAATGTCGATGTTTTTAGCAAGTAAATTCCCTTTAAAAAAATTTTCGCAAGGGGATAATTTATTTTTTAAAAATTCCAAGAAAACAAAAGTAACAAAACTGGGCAAATAACGTTTTATTAAAAAAAAAAAGAGAGAGAGAAATGATGTGGAACAAAAAAGTGACAATGAACCATAAGTTTTTCTAGGAACTATTGTTTTATTTTTTCCTAAAAGCTTGAGTTTTCTGGTATCTTGAAGCAAAATGCAATCTTTGAAACTAACCTCTGGTGGCCAGAGACCCAATCAGCAATATGGTGACTTAGGATGGGTTTTGAGGAGGAGTAGAAGGCAGGAGAGACAATTACCTGTTGTGGCTCCTTCCACATGGATATTTAATTGTTGAAAAATAATAACAACCTCAGGAATAGCTAGAGGCAGACTAGAATAACATGCCTGGCTCATGTTACTAAGCTCCTTGATCAAAATGGAATGCAAATGAAAAGGTGACGTGAAGAACGTGTCTGAGATCTGGAAGAGCATGCTTTGACTCACTCTACTGTTATTACTGAGTGGGTAAAAGCATTTCAGGAAGCCCTCTGTGTGAGTGCAGGTTTGGTAGGAATGGAGAGGGGGTGGGAAGGAGCAAAACCAAGCGTTGCAGCCTGGCCCCTTTTGAGTATTGCAGGAGGGTGTCACCCGTCTTCCTCCTGTCCCCCAGTGCTCCCTGGGTGGTGTTGCTAGATGTGTTTTTTAGACAAAATGGAGTTTATAGGCAATTTCCACAGCACATCTCTTAAATGTCATAGCTGTTCAGGGCCACTGATGAGTCGATGCTCTCTTCCTTCCCTCCAGGCTACTTGTACCTGGCCATTGAGTACGCGCCCCATGGAAACCTTCTGGACTTCCTTCACAAGAGCCGTGTGCTGGAGACGGACCCAGCATTTGCCATTGCCAATAGCACCGCGTCCACACTGTCCTCCCAGCAGCTCCTTCACTTCGCTGCCGACGTGGCCCGGGGCATGGACTACTTGAGCCAAAAACAGGTTTGTCCGGAGGACTTCGCTTTGGATATCTTTCCTGTGGAGTTCCCTCTAAAGTCAGTTTCAATATGTTTGTAGGGTCTGTCAACCTCTCTTCTTTAACTCCTTCTTAAAATCTCCCTCATTTTAATCTCTCTGTGAATAGTCCATCTATTTAAAGAAAAATTAGTACTGACAATATGTTTATCTAGCAATTTTCATAATTATGAAAATTGTATAATTTTCTTCTATCTAATTTCATATATGCAAATTTTATAATTTTCCTAATACGTAGCGAGGTACCTTAAGCTCTCTTAGCCTGGTTTGCCTCTAAATAATGTGTAATAACAGAGACACACTACATTACAGCTGGAGGATTTAACAACCTGTGTTTTTTATTTGTTCGTTTTCTGAAATTCTTCTGCCAAGATGTGGTGTGTCATTTGGCAGAATCCATTACCAGGGAATTTTGGAGGGGAACTTTAAGGGAACTGGATTGTGACTGTTTAAAATCCTTTTTTATACTATTGTTTTCTTTCCTGTTCCCCAAAGTTTTCAGCCCTGGGGCTTTCATTAGGCTGAAAATACATAATGTTTTCAAAAATTTCAGTTTATCCACAGGGATCTGGCTGCCAGAAACATTTTAGTTGGTGAAAACTATGTGGCAAAAATAGCAGATTTTGGATTGTCCCGAGGTCAAGAGGTGTATGTGAAAAAGACAATGGTAAGTGCCAGACACAGACACTGATCGCATCCTTTCCGAGGTACTCCCCTGTCTCCTGATGTTGCTTCTGAGACTGTCAGTGCTCTGTGGTGACTGAAGCATCTGACTGTATGTCCCAGTAGATACTGTGTGCCCTGGGAAACATTCTTTCTAAATGTTGGTTCCTAACATGATTGCAGCATCTGCATTAATTAATAATGAAGAAGGCACTGTCATGTGTGACCAAGTGATTGAATGTTCAAACCTAGTGGTTTGGGGTCTTGGTTCTATCCAGTCCAGACCCCAAGGCATCTCACTCAGGAACCTCTGAGGAGCTTGCACAATCCCCTTTCATGCACAGCTGACACAGCAAGGAAAAAAATTAACATATTTTCCAAAAGTCAAGAAGACAAACTAAATGGTTTCTAAATCACCAGGAGGCTCTACAGAGAAATTCATAACTTCTACAGGCTCATCTAAGATTTCTCTCTTCACTGAAACCTCAATGGTCACTATTCAAACCCAAATAAAATCCACTCTCCCAAACAGTAATATTTTATCTTTAAGTACAAGATTGCAGGAGAACCTAACCATACAGTCTTAGAGGAAGAGAGATACTCATTCTGCTTTTGGTGCCCAGTCTAGAATCACATAGTCCTAGAAGTACCGCATCCCTGCATGTTACAGCTGTGTGGATGAAATGTCACCATCCTCTCTTTTCCTTGGGTGGGCAGAATGCAGGGGCCTTAGGGATGACAAGCCCTGCAGCCTTTCCATGTGTCTGGCAGATCTACTCTGGTGGATGGCTCTCCCTTTTTTAGGTCTGATGAACATTACTTGGTCCCAGCTTTCCTGGGATGGCTCCAGTTGTCATAAGATATAGACAATCTTTTTGCTTTTGTGGGCACACCAAATTGTCTCTTAGCAAGGCTCAGGTTCCGGCATTTATTCTCAATTCCAGGCTTCTTTTTTTCCCATCATACTTATTTTAGTTACTGAGAAGATAAAGTAAAACAATACTCAAGAACATTTTGAAAGGAAATCACCCATAATTCACCACCTTGGCATATATATTTTTTTCATTTTGGCTTATTGCCTTTCACAGCATACATCCTTTTACATAGCTACAACCACAGTGAACGTAATCATTTTGGATCTTTCCACTCTCCTTTCTGATGAGGGTGTGAAGCTGGGTCCCTTTGGCTCTTCGAGGGCCCTGCATGCTTATCAACATC
|
Task1_train_12717
|
An alteration has been detected in RIGI (RNA sensor RIG-I) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Singleton-Merten syndrome 2
|
CCATTTATCAATATATTATTTCAGCCTAATTATTAATTGCCTGCAATGTGCCATGCTTTGATTATAGACAGTTGAAAGAACACACTTCATGCTCCATACAGGGCTGTGATCTTAAGGGAGAGAAATATACATGGCTAACTAACCGTAGCAGTTCTCTAACAGAAGTACATGTAAAGTGTAGCCGGGTGTGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGCCGAGGAGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCCAGGCGTGATGGCACACGCTTGTAATTCCAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGCACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTAGTACACGCAAAGTGTCACAAAACACAGGGAAAGTAACACCTAATTCTTCCAGGGAAGTCAGAGTTGTAGAATAAATACAGGAAGAAGAAAGAAGAAAGCAAGAGTAGTCATGTATATTCCATCACAACTTGGCAAAGAAAAAGAAAAAAAAAAAAGAGCAGTGATGTACAAAGGAAGCACAGACAAAAGGTGGGAGAGAGAAAGCACACGGCATGATTGAGGAGCCCAGAGGAATGCAACATGGTTGGGTTTATGAATGTTTGGAGGTGATGAAGCTCAGAGGGCAGGAGGAACCGGATTGTAAAGAAATTCATATGTGACACTGAAAAGTTGGGATCAGGTACATCAAAATCCTTACTTACAAGCAGCCTTCAAAAAGGAACTTATCTACACCACTCCCTATTACATGTCTATTTGTTCTACCTCAGAAATACAGTCACATACTACTCAGAGAGCAAGGGTGAAGTCATATATATTTTCTGTATCCCTCTCTTCCTTTCAGGGTTAGTGTAATAATAACATCAATAAACAACTGTTAGTCATATTAAAAAATCATATCTGATCTTTGGAGGAGTGACATCATGAATTCAGATCATTCCATTTCAACTAAAATGATCAAATACATATTCAAACAGTGATGACCACACAGGCACAGAGCATGGGAAAAGGCTGAGTGAGCCCAGCTCTTGGCTATCTGATGCCTAAATTCTCTCATCACCTCTTTTGCATTGCTAGTACATTTATAAGAGGTTTTTGGAAGCAAAGAGGAAGAATGTTTGCTCTCTACAGGCCACTTCTGAGGTTCATCCATTGCTTGGGATGAGAGCTCAGTTAGAGAGGCTAAAAAATGTGACTGTTACTCAAGTTCAAGGTTAAATATTTTCTACTAAACAGAGAGAGGGTCAAAGTTCAGTATTCGTCTAGATGGCTCTGAACTAGAGGTAGTAGAGAGTAACAGAATCTCAAAGGCTTGTTATTGGATCCAACTTACACTTCTGGGGCTTATAAACAACTTGCTCCAGTTCCTCCAGATTGTGTTTGACTGTTGCTATCACTGACGCATCAAGAGAAGCACACAGCTTGCAGATATAATCCAAGGCTTCATCTGTGTTTTTGGCATCCCCAACACCAACCGAGGCAGTCAGCCCAATGACCTGTAAGGAGCATTCAAAATCATTAGATGTCTGAGAAATGGTACAATGTTTCCACAACCCCTCATATAACTCTTTCCTGCTGGGGTAGGGCGTTTTTTTGTTTTTACTAACACACAGTGTATGGCACATGGAGGCACATAATGCATATTTACTAAGTGAACAAATGAATAAAGGAAACAAAATTCATAATGAGTTGTACAATATGGACTTGGGACCTGAGAAGGACATCTTCAGTGTGGCCATAAGAGTAAGAAAATAGGAGTTAGGAAGATTATAGCTCTTCTGAAGCATTCGTCTGACTTTGGAGATACCTGGGGCAGTGGGCCTGAAGATCCTCCAAGTTTCTGATCTAGATAATTAAACATGATCATATTGTACGGGTGTTGTTTACTAGTGTTGTGGCATTCATCAAATATCATCAAAGTAAAGATGGATAGTGATGGAATCGTTCCCTTTTTAAGGTTGTTCACAAGAATCTGTGGAGTTAAAATGATGATGTCATTGTTCTCAACAATCTGTTCCACTGGGACATTCTCAGCTGTTGCTCCAGAAATGCCTGTAACTCTATACCTGGGAAATGACAGAAATTCCATATTACTAACCACGATGTGGATAAGGAACCACAAAGATGAAATGCTAGATCAGAACATCAACTGATTAAATTCTCCCTGAGTCCAAAAGAAGAATAGCTGTAGGCAAGTCCTTAGCACAGAGCCTGACACATAGTAAGAGATCAATAAATCCAAGCTAGTTGTAATTTATAGTACTATATATTATTTTAAGTCACTAAGAGAGAAAAGAGTACGTAAAAGAATAATATCAAATAAATTATAAAATCACTAAAGAAGTTAAATGTGCCACGTAAACATCAAATTTATTCCTGAAGTCATTTACTCCCCATAGAAGGGCAAACCAGGGGAGTTTAAGTTTTCTGGTACATCTAACAAAAAAGACTTGAATCCATGAAGGGATAACATCTGGATTATAAAAAAGCTGAATCTAATATAAATTTTTTTAAATCATTTGTCAAAAACAAAACAGAAAACACATCAATTACATGAAGCTGGAGAAAAAGAAGTTGAAGCAACTATTATACCTACCCATGTCTTTCAAAGTATTTTGAGAATACAGATTTCTGCTGTTCATACACTGGGATCTGATTCGCAAAAAAGACAACTTTCCCCTTTTGTCCTTGTGGGAATTTTTTAAGATGATGTTCACATATAAGCAGTGAAACAAAGGTTTTTCCACAACCTTTTAACATGTAAGGAAAAAAGAAAACATGTAACTCATATATTAGATATTTCTCTGGAAAGGTGTTTATTTTTGGCTCTTCTAATACCACTGAGCTGACTAATTAATTGATAATTTAAATATGTTAATGATTACAGAATTTACACTATGACTAAAAAATATCAAGCTGCTCCCTAAGTAGCATGCCAACAGCCAGGACCCAAAAGCAAGCTAAAAGAGGACACTTTTCTTTACCTTCTCATGAAAGGTAAAGAAAATACATTAAATACATTAATGTACATAATTAATTAATTACATAATCCCATAAAAAACATTAGGATTATATTAGGACAGTTTTCTCAAAAGACACATGGAACAAGGAAAAAACTGAAACTTGCCCATTCTGTCCCAGTATTCAACAAAAGAAAAAAAAGGAAGCAAACAGAAAAACTATGTAAGTAATGGCAATAGGCTTACCTGTAGGAGCACATATTATTGTGTTTTTTCCTTTCATAGCAGGCAAAGCAAGCTCTAATTGGTAATTTCTTGGTTTAAATGGGCTGTACAAGTTTGTATCAGACACTTCTGGAATACAAAAGGAGCAAAATTACCAAACAGTTCCTGCTCTGAGGAATCACGGCAATAGCTACAGTCTAATGTCCACAAATTCTGACTCCAGCAAGAAGATCCTCATTGGAGAAAGTTTAGAATCCTTTCTCTTGGTAACCATTCTAGCTTTTCCACTAATTTGAAGTACAGAATTCTCTCAGTGACAAAGTATTGATGGCAAGAAAGAAAAAAAAAAAAACATGAATTATTTTTTATACAATCATGGAAGGCTAACAGAAACCAAAGAAAGAATGGCCCCATTCAGGGTAAGACAAGCTGTCTACTAAAGGCAATGCTGTATGTGAAAAAAGCAACAAATCCTCCCACGATCTTTGAAGAAAACCAAACTGTTAACATTGGATTCTCAAAGCAATTTCTTATTAAGGAGCAATAATGCTTTGTCGTTCTTCAAGTTCTCAAATGATATTTTCTCTCAACATAACCAGAAGTTTTAAAAAATAATCAAAGGCTTTATCTCAATAACAGGTAGGCATATAAATCATTAAGAGCTAGCAAAGACTTTGGAAATTATCTACTGAGTCTAACCTACCCATTTTAGAGAAAGGGAGAATTTCTAAAAGGTTAAGTGAATTAAACTCACACGAAAGACA
|
CCATTTATCAATATATTATTTCAGCCTAATTATTAATTGCCTGCAATGTGCCATGCTTTGATTATAGACAGTTGAAAGAACACACTTCATGCTCCATACAGGGCTGTGATCTTAAGGGAGAGAAATATACATGGCTAACTAACCGTAGCAGTTCTCTAACAGAAGTACATGTAAAGTGTAGCCGGGTGTGGTGGCTCACACCTGTAATCCTAACACTTTGGGAGGCCGAGGAGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCCAGGCGTGATGGCACACGCTTGTAATTCCAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGCACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTAGTACACGCAAAGTGTCACAAAACACAGGGAAAGTAACACCTAATTCTTCCAGGGAAGTCAGAGTTGTAGAATAAATACAGGAAGAAGAAAGAAGAAAGCAAGAGTAGTCATGTATATTCCATCACAACTTGGCAAAGAAAAAGAAAAAAAAAAAAGAGCAGTGATGTACAAAGGAAGCACAGACAAAAGGTGGGAGAGAGAAAGCACACGGCATGATTGAGGAGCCCAGAGGAATGCAACATGGTTGGGTTTATGAATGTTTGGAGGTGATGAAGCTCAGAGGGCAGGAGGAACCGGATTGTAAAGAAATTCATATGTGACACTGAAAAGTTGGGATCAGGTACATCAAAATCCTTACTTACAAGCAGCCTTCAAAAAGGAACTTATCTACACCACTCCCTATTACATGTCTATTTGTTCTACCTCAGAAATACAGTCACATACTACTCAGAGAGCAAGGGTGAAGTCATATATATTTTCTGTATCCCTCTCTTCCTTTCAGGGTTAGTGTAATAATAACATCAATAAACAACTGTTAGTCATATTAAAAAATCATATCTGATCTTTGGAGGAGTGACATCATGAATTCAGATCATTCCATTTCAACTAAAATGATCAAATACATATTCAAACAGTGATGACCACACAGGCACAGAGCATGGGAAAAGGCTGAGTGAGCCCAGCTCTTGGCTATCTGATGCCTAAATTCTCTCATCACCTCTTTTGCATTGCTAGTACATTTATAAGAGGTTTTTGGAAGCAAAGAGGAAGAATGTTTGCTCTCTACAGGCCACTTCTGAGGTTCATCCATTGCTTGGGATGAGAGCTCAGTTAGAGAGGCTAAAAAATGTGACTGTTACTCAAGTTCAAGGTTAAATATTTTCTACTAAACAGAGAGAGGGTCAAAGTTCAGTATTCGTCTAGATGGCTCTGAACTAGAGGTAGTAGAGAGTAACAGAATCTCAAAGGCTTGTTATTGGATCCAACTTACACTTCTGGGGCTTATAAACAACTTGCTCCAGTTCCTCCAGATTGTGTTTGACTGTTGCTATCACTGACGCATCAAGAGAAGCACACAGCTTGCAGATATAATCCAAGGCTTCATCTGTGTTTTTGGCATCCCCAACACCAACCGAGGCAGTCAGCCCAATGACCTGTAAGGAGCATTCAAAATCATTAGATGTCTGAGAAATGGTACAATGTTTCCACAACCCCTCATATAACTCTTTCCTGCTGGGGTAGGGCGTTTTTTTGTTTTTACTAACACACAGTGTATGGCACATGGAGGCACATAATGCATATTTACTAAGTGAACAAATGAATAAAGGAAACAAAATTCATAATGAGTTGTACAATATGGACTTGGGACCTGAGAAGGACATCTTCAGTGTGGCCATAAGAGTAAGAAAATAGGAGTTAGGAAGATTATAGCTCTTCTGAAGCATTCGTCTGACTTTGGAGATACCTGGGGCAGTGGGCCTGAAGATCCTCCAAGTTTCTGATCTAGATAATTAAACATGATCATATTGTACGGGTGTTGTTTACTAGTGTTGTGGCATGCATCAAATATCATCAAAGTAAAGATGGATAGTGATGGAATCGTTCCCTTTTTAAGGTTGTTCACAAGAATCTGTGGAGTTAAAATGATGATGTCATTGTTCTCAACAATCTGTTCCACTGGGACATTCTCAGCTGTTGCTCCAGAAATGCCTGTAACTCTATACCTGGGAAATGACAGAAATTCCATATTACTAACCACGATGTGGATAAGGAACCACAAAGATGAAATGCTAGATCAGAACATCAACTGATTAAATTCTCCCTGAGTCCAAAAGAAGAATAGCTGTAGGCAAGTCCTTAGCACAGAGCCTGACACATAGTAAGAGATCAATAAATCCAAGCTAGTTGTAATTTATAGTACTATATATTATTTTAAGTCACTAAGAGAGAAAAGAGTACGTAAAAGAATAATATCAAATAAATTATAAAATCACTAAAGAAGTTAAATGTGCCACGTAAACATCAAATTTATTCCTGAAGTCATTTACTCCCCATAGAAGGGCAAACCAGGGGAGTTTAAGTTTTCTGGTACATCTAACAAAAAAGACTTGAATCCATGAAGGGATAACATCTGGATTATAAAAAAGCTGAATCTAATATAAATTTTTTTAAATCATTTGTCAAAAACAAAACAGAAAACACATCAATTACATGAAGCTGGAGAAAAAGAAGTTGAAGCAACTATTATACCTACCCATGTCTTTCAAAGTATTTTGAGAATACAGATTTCTGCTGTTCATACACTGGGATCTGATTCGCAAAAAAGACAACTTTCCCCTTTTGTCCTTGTGGGAATTTTTTAAGATGATGTTCACATATAAGCAGTGAAACAAAGGTTTTTCCACAACCTTTTAACATGTAAGGAAAAAAGAAAACATGTAACTCATATATTAGATATTTCTCTGGAAAGGTGTTTATTTTTGGCTCTTCTAATACCACTGAGCTGACTAATTAATTGATAATTTAAATATGTTAATGATTACAGAATTTACACTATGACTAAAAAATATCAAGCTGCTCCCTAAGTAGCATGCCAACAGCCAGGACCCAAAAGCAAGCTAAAAGAGGACACTTTTCTTTACCTTCTCATGAAAGGTAAAGAAAATACATTAAATACATTAATGTACATAATTAATTAATTACATAATCCCATAAAAAACATTAGGATTATATTAGGACAGTTTTCTCAAAAGACACATGGAACAAGGAAAAAACTGAAACTTGCCCATTCTGTCCCAGTATTCAACAAAAGAAAAAAAAGGAAGCAAACAGAAAAACTATGTAAGTAATGGCAATAGGCTTACCTGTAGGAGCACATATTATTGTGTTTTTTCCTTTCATAGCAGGCAAAGCAAGCTCTAATTGGTAATTTCTTGGTTTAAATGGGCTGTACAAGTTTGTATCAGACACTTCTGGAATACAAAAGGAGCAAAATTACCAAACAGTTCCTGCTCTGAGGAATCACGGCAATAGCTACAGTCTAATGTCCACAAATTCTGACTCCAGCAAGAAGATCCTCATTGGAGAAAGTTTAGAATCCTTTCTCTTGGTAACCATTCTAGCTTTTCCACTAATTTGAAGTACAGAATTCTCTCAGTGACAAAGTATTGATGGCAAGAAAGAAAAAAAAAAAAACATGAATTATTTTTTATACAATCATGGAAGGCTAACAGAAACCAAAGAAAGAATGGCCCCATTCAGGGTAAGACAAGCTGTCTACTAAAGGCAATGCTGTATGTGAAAAAAGCAACAAATCCTCCCACGATCTTTGAAGAAAACCAAACTGTTAACATTGGATTCTCAAAGCAATTTCTTATTAAGGAGCAATAATGCTTTGTCGTTCTTCAAGTTCTCAAATGATATTTTCTCTCAACATAACCAGAAGTTTTAAAAAATAATCAAAGGCTTTATCTCAATAACAGGTAGGCATATAAATCATTAAGAGCTAGCAAAGACTTTGGAAATTATCTACTGAGTCTAACCTACCCATTTTAGAGAAAGGGAGAATTTCTAAAAGGTTAAGTGAATTAAACTCACACGAAAGACA
|
Task1_train_12718
|
The gene RIGI (RNA sensor RIG-I) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Singleton-Merten syndrome 2
|
ACTTACAAGCAGCCTTCAAAAAGGAACTTATCTACACCACTCCCTATTACATGTCTATTTGTTCTACCTCAGAAATACAGTCACATACTACTCAGAGAGCAAGGGTGAAGTCATATATATTTTCTGTATCCCTCTCTTCCTTTCAGGGTTAGTGTAATAATAACATCAATAAACAACTGTTAGTCATATTAAAAAATCATATCTGATCTTTGGAGGAGTGACATCATGAATTCAGATCATTCCATTTCAACTAAAATGATCAAATACATATTCAAACAGTGATGACCACACAGGCACAGAGCATGGGAAAAGGCTGAGTGAGCCCAGCTCTTGGCTATCTGATGCCTAAATTCTCTCATCACCTCTTTTGCATTGCTAGTACATTTATAAGAGGTTTTTGGAAGCAAAGAGGAAGAATGTTTGCTCTCTACAGGCCACTTCTGAGGTTCATCCATTGCTTGGGATGAGAGCTCAGTTAGAGAGGCTAAAAAATGTGACTGTTACTCAAGTTCAAGGTTAAATATTTTCTACTAAACAGAGAGAGGGTCAAAGTTCAGTATTCGTCTAGATGGCTCTGAACTAGAGGTAGTAGAGAGTAACAGAATCTCAAAGGCTTGTTATTGGATCCAACTTACACTTCTGGGGCTTATAAACAACTTGCTCCAGTTCCTCCAGATTGTGTTTGACTGTTGCTATCACTGACGCATCAAGAGAAGCACACAGCTTGCAGATATAATCCAAGGCTTCATCTGTGTTTTTGGCATCCCCAACACCAACCGAGGCAGTCAGCCCAATGACCTGTAAGGAGCATTCAAAATCATTAGATGTCTGAGAAATGGTACAATGTTTCCACAACCCCTCATATAACTCTTTCCTGCTGGGGTAGGGCGTTTTTTTGTTTTTACTAACACACAGTGTATGGCACATGGAGGCACATAATGCATATTTACTAAGTGAACAAATGAATAAAGGAAACAAAATTCATAATGAGTTGTACAATATGGACTTGGGACCTGAGAAGGACATCTTCAGTGTGGCCATAAGAGTAAGAAAATAGGAGTTAGGAAGATTATAGCTCTTCTGAAGCATTCGTCTGACTTTGGAGATACCTGGGGCAGTGGGCCTGAAGATCCTCCAAGTTTCTGATCTAGATAATTAAACATGATCATATTGTACGGGTGTTGTTTACTAGTGTTGTGGCATTCATCAAATATCATCAAAGTAAAGATGGATAGTGATGGAATCGTTCCCTTTTTAAGGTTGTTCACAAGAATCTGTGGAGTTAAAATGATGATGTCATTGTTCTCAACAATCTGTTCCACTGGGACATTCTCAGCTGTTGCTCCAGAAATGCCTGTAACTCTATACCTGGGAAATGACAGAAATTCCATATTACTAACCACGATGTGGATAAGGAACCACAAAGATGAAATGCTAGATCAGAACATCAACTGATTAAATTCTCCCTGAGTCCAAAAGAAGAATAGCTGTAGGCAAGTCCTTAGCACAGAGCCTGACACATAGTAAGAGATCAATAAATCCAAGCTAGTTGTAATTTATAGTACTATATATTATTTTAAGTCACTAAGAGAGAAAAGAGTACGTAAAAGAATAATATCAAATAAATTATAAAATCACTAAAGAAGTTAAATGTGCCACGTAAACATCAAATTTATTCCTGAAGTCATTTACTCCCCATAGAAGGGCAAACCAGGGGAGTTTAAGTTTTCTGGTACATCTAACAAAAAAGACTTGAATCCATGAAGGGATAACATCTGGATTATAAAAAAGCTGAATCTAATATAAATTTTTTTAAATCATTTGTCAAAAACAAAACAGAAAACACATCAATTACATGAAGCTGGAGAAAAAGAAGTTGAAGCAACTATTATACCTACCCATGTCTTTCAAAGTATTTTGAGAATACAGATTTCTGCTGTTCATACACTGGGATCTGATTCGCAAAAAAGACAACTTTCCCCTTTTGTCCTTGTGGGAATTTTTTAAGATGATGTTCACATATAAGCAGTGAAACAAAGGTTTTTCCACAACCTTTTAACATGTAAGGAAAAAAGAAAACATGTAACTCATATATTAGATATTTCTCTGGAAAGGTGTTTATTTTTGGCTCTTCTAATACCACTGAGCTGACTAATTAATTGATAATTTAAATATGTTAATGATTACAGAATTTACACTATGACTAAAAAATATCAAGCTGCTCCCTAAGTAGCATGCCAACAGCCAGGACCCAAAAGCAAGCTAAAAGAGGACACTTTTCTTTACCTTCTCATGAAAGGTAAAGAAAATACATTAAATACATTAATGTACATAATTAATTAATTACATAATCCCATAAAAAACATTAGGATTATATTAGGACAGTTTTCTCAAAAGACACATGGAACAAGGAAAAAACTGAAACTTGCCCATTCTGTCCCAGTATTCAACAAAAGAAAAAAAAGGAAGCAAACAGAAAAACTATGTAAGTAATGGCAATAGGCTTACCTGTAGGAGCACATATTATTGTGTTTTTTCCTTTCATAGCAGGCAAAGCAAGCTCTAATTGGTAATTTCTTGGTTTAAATGGGCTGTACAAGTTTGTATCAGACACTTCTGGAATACAAAAGGAGCAAAATTACCAAACAGTTCCTGCTCTGAGGAATCACGGCAATAGCTACAGTCTAATGTCCACAAATTCTGACTCCAGCAAGAAGATCCTCATTGGAGAAAGTTTAGAATCCTTTCTCTTGGTAACCATTCTAGCTTTTCCACTAATTTGAAGTACAGAATTCTCTCAGTGACAAAGTATTGATGGCAAGAAAGAAAAAAAAAAAAACATGAATTATTTTTTATACAATCATGGAAGGCTAACAGAAACCAAAGAAAGAATGGCCCCATTCAGGGTAAGACAAGCTGTCTACTAAAGGCAATGCTGTATGTGAAAAAAGCAACAAATCCTCCCACGATCTTTGAAGAAAACCAAACTGTTAACATTGGATTCTCAAAGCAATTTCTTATTAAGGAGCAATAATGCTTTGTCGTTCTTCAAGTTCTCAAATGATATTTTCTCTCAACATAACCAGAAGTTTTAAAAAATAATCAAAGGCTTTATCTCAATAACAGGTAGGCATATAAATCATTAAGAGCTAGCAAAGACTTTGGAAATTATCTACTGAGTCTAACCTACCCATTTTAGAGAAAGGGAGAATTTCTAAAAGGTTAAGTGAATTAAACTCACACGAAAGACATGTAAAGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGGCCGACATGCTGAAATCCCCACCTCTCCAAAAAAAATACAAAAATTAACCAGATGTGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACGCCAGCCTGAGCAACAGAGCGAGAGACTCAGTCTCAAAAAACAATAACAACAACAACAACAAAAGGCATGCAAGAATCTTCACGTGTCAGAAAATTTAAAGCAACTCATATTCATGTATCTGTTTTTTTTTTCCAAGGGGTAACAGATTTTATTCTGAAATGACCAAAAAAACAAAACAAAACAAAAAAACTTGTAACATTCAGTTGCAGACGTAATCTGCACATTTTCTCTTTATGATGTTATTCTAATATCATTTTTCTTCTACCACCACTATTAATCCCAATTTCCTTCCTGATACTCTTTTATACATAACTTTTTATTATGGCATATTATGCAACTTGCCGGTCTCATAAAACCATCAAGAAAATATGCTTTGAGAAGCATAAGGGGGCCTCACAGGGCCACAGCTAACTTATACAGTGCCTTTGTGTAAATGACAAAAGGGAGCTCCTCTTGGAGGACACAGCCCCTCAGTGCACTGTGTTGCAAACGACACAGGCTGGATCTCAGCCCCTACTCAACCTCTCAGCCAGGCGCATTTGGGTAGCACACTAACTTCATCAACTTGCAGGGCAGCCCAGGGATCCTAAAAGGA
|
ACTTACAAGCAGCCTTCAAAAAGGAACTTATCTACACCACTCCCTATTACATGTCTATTTGTTCTACCTCAGAAATACAGTCACATACTACTCAGAGAGCAAGGGTGAAGTCATATATATTTTCTGTATCCCTCTCTTCCTTTCAGGGTTAGTGTAATAATAACATCAATAAACAACTGTTAGTCATATTAAAAAATCATATCTGATCTTTGGAGGAGTGACATCATGAATTCAGATCATTCCATTTCAACTAAAATGATCAAATACATATTCAAACAGTGATGACCACACAGGCACAGAGCATGGGAAAAGGCTGAGTGAGCCCAGCTCTTGGCTATCTGATGCCTAAATTCTCTCATCACCTCTTTTGCATTGCTAGTACATTTATAAGAGGTTTTTGGAAGCAAAGAGGAAGAATGTTTGCTCTCTACAGGCCACTTCTGAGGTTCATCCATTGCTTGGGATGAGAGCTCAGTTAGAGAGGCTAAAAAATGTGACTGTTACTCAAGTTCAAGGTTAAATATTTTCTACTAAACAGAGAGAGGGTCAAAGTTCAGTATTCGTCTAGATGGCTCTGAACTAGAGGTAGTAGAGAGTAACAGAATCTCAAAGGCTTGTTATTGGATCCAACTTACACTTCTGGGGCTTATAAACAACTTGCTCCAGTTCCTCCAGATTGTGTTTGACTGTTGCTATCACTGACGCATCAAGAGAAGCACACAGCTTGCAGATATAATCCAAGGCTTCATCTGTGTTTTTGGCATCCCCAACACCAACCGAGGCAGTCAGCCCAATGACCTGTAAGGAGCATTCAAAATCATTAGATGTCTGAGAAATGGTACAATGTTTCCACAACCCCTCATATAACTCTTTCCTGCTGGGGTAGGGCGTTTTTTTGTTTTTACTAACACACAGTGTATGGCACATGGAGGCACATAATGCATATTTACTAAGTGAACAAATGAATAAAGGAAACAAAATTCATAATGAGTTGTACAATATGGACTTGGGACCTGAGAAGGACATCTTCAGTGTGGCCATAAGAGTAAGAAAATAGGAGTTAGGAAGATTATAGCTCTTCTGAAGCATTCGTCTGACTTTGGAGATACCTGGGGCAGTGGGCCTGAAGATCCTCCAAGTTTCTGATCTAGATAATTAAACATGATCATATTGTACGGGTGTTGTTTACTAGTGTTGTGGCATTCATCAAATATCATCAAAGTAAAGATGGATAGTGATGGAATCGTTCCCTTTTTAAGGTTGTTCACAAGAATCTGTGGAGTTAAAATGATGATGTCATTGTTCTCAACAATCTGTTCCACTGGGACATTCTCAGCTGTTGCTCCAGAAATGCCTGTAACTCTATACCTGGGAAATGACAGAAATTCCATATTACTAACCACGATGTGGATAAGGAACCACAAAGATGAAATGCTAGATCAGAACATCAACTGATTAAATTCTCCCTGAGTCCAAAAGAAGAATAGCTGTAGGCAAGTCCTTAGCACAGAGCCTGACACATAGTAAGAGATCAATAAATCCAAGCTAGTTGTAATTTATAGTACTATATATTATTTTAAGTCACTAAGAGAGAAAAGAGTACGTAAAAGAATAATATCAAATAAATTATAAAATCACTAAAGAAGTTAAATGTGCCACGTAAACATCAAATTTATTCCTGAAGTCATTTACTCCCCATAGAAGGGCAAACCAGGGGAGTTTAAGTTTTCTGGTACATCTAACAAAAAAGACTTGAATCCATGAAGGGATAACATCTGGATTATAAAAAAGCTGAATCTAATATAAATTTTTTTAAATCATTTGTCAAAAACAAAACAGAAAACACATCAATTACATGAAGCTGGAGAAAAAGAAGTTGAAGCAACTATTATACCTACCCATGTCTTTCAAAGTATTTTGAGAATACAGATTTCTGCTGTTCATACACTGGGATCTGATTCGCAAAAAAGACAACTTTCCCCTTTTGTCCTTGTGGGAATTTTTTAAGATGATGTTCACATATAAGCAGTGAAACAAAGGTTTTTCCAAAACCTTTTAACATGTAAGGAAAAAAGAAAACATGTAACTCATATATTAGATATTTCTCTGGAAAGGTGTTTATTTTTGGCTCTTCTAATACCACTGAGCTGACTAATTAATTGATAATTTAAATATGTTAATGATTACAGAATTTACACTATGACTAAAAAATATCAAGCTGCTCCCTAAGTAGCATGCCAACAGCCAGGACCCAAAAGCAAGCTAAAAGAGGACACTTTTCTTTACCTTCTCATGAAAGGTAAAGAAAATACATTAAATACATTAATGTACATAATTAATTAATTACATAATCCCATAAAAAACATTAGGATTATATTAGGACAGTTTTCTCAAAAGACACATGGAACAAGGAAAAAACTGAAACTTGCCCATTCTGTCCCAGTATTCAACAAAAGAAAAAAAAGGAAGCAAACAGAAAAACTATGTAAGTAATGGCAATAGGCTTACCTGTAGGAGCACATATTATTGTGTTTTTTCCTTTCATAGCAGGCAAAGCAAGCTCTAATTGGTAATTTCTTGGTTTAAATGGGCTGTACAAGTTTGTATCAGACACTTCTGGAATACAAAAGGAGCAAAATTACCAAACAGTTCCTGCTCTGAGGAATCACGGCAATAGCTACAGTCTAATGTCCACAAATTCTGACTCCAGCAAGAAGATCCTCATTGGAGAAAGTTTAGAATCCTTTCTCTTGGTAACCATTCTAGCTTTTCCACTAATTTGAAGTACAGAATTCTCTCAGTGACAAAGTATTGATGGCAAGAAAGAAAAAAAAAAAAACATGAATTATTTTTTATACAATCATGGAAGGCTAACAGAAACCAAAGAAAGAATGGCCCCATTCAGGGTAAGACAAGCTGTCTACTAAAGGCAATGCTGTATGTGAAAAAAGCAACAAATCCTCCCACGATCTTTGAAGAAAACCAAACTGTTAACATTGGATTCTCAAAGCAATTTCTTATTAAGGAGCAATAATGCTTTGTCGTTCTTCAAGTTCTCAAATGATATTTTCTCTCAACATAACCAGAAGTTTTAAAAAATAATCAAAGGCTTTATCTCAATAACAGGTAGGCATATAAATCATTAAGAGCTAGCAAAGACTTTGGAAATTATCTACTGAGTCTAACCTACCCATTTTAGAGAAAGGGAGAATTTCTAAAAGGTTAAGTGAATTAAACTCACACGAAAGACATGTAAAGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTGGGAGGCTGAGGTGGATGGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGGCCGACATGCTGAAATCCCCACCTCTCCAAAAAAAATACAAAAATTAACCAGATGTGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCCAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACGCCAGCCTGAGCAACAGAGCGAGAGACTCAGTCTCAAAAAACAATAACAACAACAACAACAAAAGGCATGCAAGAATCTTCACGTGTCAGAAAATTTAAAGCAACTCATATTCATGTATCTGTTTTTTTTTTCCAAGGGGTAACAGATTTTATTCTGAAATGACCAAAAAAACAAAACAAAACAAAAAAACTTGTAACATTCAGTTGCAGACGTAATCTGCACATTTTCTCTTTATGATGTTATTCTAATATCATTTTTCTTCTACCACCACTATTAATCCCAATTTCCTTCCTGATACTCTTTTATACATAACTTTTTATTATGGCATATTATGCAACTTGCCGGTCTCATAAAACCATCAAGAAAATATGCTTTGAGAAGCATAAGGGGGCCTCACAGGGCCACAGCTAACTTATACAGTGCCTTTGTGTAAATGACAAAAGGGAGCTCCTCTTGGAGGACACAGCCCCTCAGTGCACTGTGTTGCAAACGACACAGGCTGGATCTCAGCCCCTACTCAACCTCTCAGCCAGGCGCATTTGGGTAGCACACTAACTTCATCAACTTGCAGGGCAGCCCAGGGATCCTAAAAGGA
|
Task1_train_12719
|
A mutation on Chromosome 9 affecting APTX (aprataxin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
|
CTCACAACTTGAGTGAAAAGTCACATCCCCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACGAACATGTGGCTGTTTCCTCACAGCCAGGAACCCTCGGTATTAGAAGAAAACTCCAACCCCCCACACCATCATCTAGCCTCTTTTCTCACTGTGAAGAACTGATGAGACAGAATTCCTGAGAAGGGAACATTTAGGTAATCTGGGATAGAAGGGCATGGAAGGACTGGACAAACTAAGCCTCCCCATGAAGGAAGGGAAAAGAATATTACAAAACAGACTAACAGAAAACAAGACCCATCAGTATCTTCAGGATAAACAAGAGGCCACTCTAGATGCTCTGATTAAAGGTTGTCCATGCCTACAGAGGCGGAGGATAAATCTAAGAAACAGAAATGTATAACCAGCCCAATGCTTCCATACTCTGCATTAGGTCAGTGTGAACATGGCTTTGCTCCCAATGGTCAGACCTGACATGGGTCCTTCTGAAGATGGTGGGTCAGGTATATCCCAGCCACCCTCACCAGAGAATACATCTATGACAAACCCAAATTCCTAATCCTGAAGTACTTTGAGCCACTCTACATTGTGGCCACTCAATAATAGAATAAATTTGTGAAAAAGCTGCATGTTTTAATTTAGGAAATGAGTAGAAGTTCACAAGCAACCCAGAATAGGTGCCAGCAGTTTGCTCCAGTGGGCCACACCACAGCAGCAGCTCAGGCTCTGCAGAATCACTGTGTCCAGTGCTTCCTGAGATGTTCTTTCAGCTGAGGAATGGAAGGCAGCAGCTGCTGGCACTCATGACAACGAAGGGGCAGCTTCAAGAGCTCAGGCATCCCATCTCGGACAGTTACTCTACCAGCCTCTTGTACCATCTCGATCACAGCTGCAGGCAAGGAAGAAAAGTCAAATCCCAGCTACTCTGGAAAACCAATATGAGATACCAAAAAAAAAAAAAAAAAATCAAAAACGTGACTCCAATCAGTATGCCAGGCCAGGTATTCTACAGCTCCGTAAGCTTAGTTTAGACTTCCCTCAGGCAAAATGAGCTTAATCAGATTATAAATATGAGCAACCCACCTTTGAAATAATACACTCCTTCAGGACACACTCTAGGCAATCCATGTTACTCTGTCAAGAGCTCATCAGAGTGCTTTACCTCTGGTTGGCCCTTGGTAAATGCCAGCTGCCATTGTGAACACCCCATCAATGCTTAAGTTCTTACACACCAGGAAATGCTTTCCTGGTGTGTAAGAAAGCATCACACACCAGAAAATGCTTTCTTCTACATATACACAGGGTTCCCCCTGCTAATTCACCACTCCTGACAGGAGGCAGCCCCAAAGCTCCCACCCAACTGATGGCAGAAGAGACAAAGAATTGTCCACAGCTTTCTTATCCATGAACTCCACTAATTCTCACGGCAGCCTTTAAGTCCCCTTTTGTCACAATAAAACACTGACCCTGACATAATAGCTTTCTAGGTCCCCCAAGAAGACAACTCACAGCAAAGTGGCAATAATACTACAATCCAAATAATCCAGTTTCTTTTCACAGGGCTCGCTTTATAGGGAACACAAAGTTGTACATAGGTTTTTGAGGTCAGACTGTTATTCAGGGAAACAACCAAATCAAATATAAGAACAGCTCAGAAAATGAAACAAATGTGAAAACCAAGGAACACTGTTTACCTTGTGATTCTAGGAAGTATTCTGTATTGAAAGAATTCCAATGTTTTTTGTTTTTAAGGCAAGGAGAATCAAAATCCTGGCTGATCACATGAAGATGTACATGGCTAGTTGAAAGAAAAAAAAACTGAGCATTAAACTCTTTAACAACTATGGCTTAATCAAAATGACAAAGAGTATGAGTACATTGTATATTCATACTATTGAATACTCTTTGAATATTCATACTATTGAAGTGATAGTGTGTCCATTTAATTCAATTGATTCATTCATTTACTTAAGAATATTTAATGCTCAATAAGTATGTACTATGGCCAAACACTGTTCCAGGCACTGAGACTTTAGCAAGAAACAAAATGGGAAAAGCCTCTGCCCTTATAGAAATTGTACGCTAATGAGGAAAGACAAATAATAAATAAGCAAACAAATAAACAAACAAAAAAAAACTTAAAGAATTAACATTGCCAAGAAAAAATAAACAAGGAAAATGGGATAGAGTGCCCAGGGGTAGAAGCTGCCCTCTTTAGTTAACAGTGTTCAGGGAAAGCATCTCCCGGGAAGTGATTTGAACGGAGACAGCACCCAAGCAAGCTAGGTCTGTGGGAAGAGTGTCTCAGAAAGTGAGGAGGCCAAGAGCAGGGGCCCTGAGATGAGGAAAAGCTCAGTGCAACCAAGAAAGAGAAAGAAGGTAATATGGCCCAAATGTATGGCCTGAATTGTTGGAGCCAAGCAGCAGAAACGAGGCAGGAGCCAGGTCATAAAGCCTCTTAAAGGTGACAAAGGGTTTGCATTCTATTCTGAATCTACTGGGAAGCCATTGAAGGATTTTCAGCCGAAGAGTGCTACTATCTGATTTATACTCTTTTTTTTTGTTAACAATAAAAATTGAATTATAAAATGGACCACAATTTAAAAGTGGGCCTATTTTAATTTTATTATTCTTAAATTCATTCTTTTGAAAATGCAACCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGCCCAACATGGTGAAACTAACTACTAAAAATACAAAAAACTAACTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAACCTGGGTGACAAAGTTAGACTCCATCACTAAAAAAAGAAGAAAAAGAAAAAGAAAATGCACTTTATTTTTGAAATGATAAAAGATTTAACTATGAGCTGACAAAGTAGAGGTCGGCTGACATTAGTGGGTCAACTCTTCATGTAGATATTTAAATGCTGTTTTTTCTGTATTACATCAAAATGATTTGCAATAGGAAATTGGAAAAGGGGAGCAAAGCAGAGTGCAAAGCATATACTGAGGTCTTTCCATGGGTATCTGATAGAATGCAGATTCAGCACAATAAAATGTAGACTGCAGCAGTGGCCTGTAAGTGTACTCCAAGCGTACCGTAAGAACCTATGTAAAAACCATTTTTTTCTTATTCCTAACAGAAAAACAAATTTTGTTTTGTTTAAACAATAAAATGTAATGGAAAGATCTGTACTGTAAAACTACTTGCTATAAACTATCACAAGGACAGAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAACTAAACAATGAGATCACTTGGACACAGGGCAGGGAACATCACATACCGGGGCCTGTCAGGGGGGTGGGGGGCTCGGGGAGGGACAACATTAAGAGAAATACCTAATGTAAATGATGAGTTGATGGGCGCAGCAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCCTGTTGTGCACATGGACCCTAGAACTTGAGTATAATAAAAAAAAATAAAAACTACTTGCTGTAGCCCATGTGTTCAGTTTGTTCAACAACCTCACTCACACATGATGAATTACATGAATAGAAAGTCACCAAATAAGACTCAAGACAAAAAAATTATCTATCAACCTCCATATGAAAAGACCACAGCTTTAATGATTTATACAATCCTTAAGCTTAATATCTGGTCAGTATAGGTTTCCAAATCAAAATC
|
CTCACAACTTGAGTGAAAAGTCACATCCCCAAAGATATCCACAATTTCATCAAACCCAACTTTTTAGTTTTCCCTTCACCTTTAGTTCTAATATTATCCCAAAAAACAACTGAATACAACTGTTTTATCCAAATTTATTCTCAGGGAAAAAGAAAGTAGTGGCTCTACGCAACTTTTTCATTCACCAACCACCTTTCCATGCATCAGAACCTATGCTGTGATTGTTAGCTGAACTTCAATAGTTTCCACCTACTTAAGAGAGATGCCTCAAACAAATTAACTTTATTTTCAGACAACAGGTCCAAGAAGACTTCACAGCTCAATCATGACGAACATGTGGCTGTTTCCTCACAGCCAGGAACCCTCGGTATTAGAAGAAAACTCCAACCCCCCACACCATCATCTAGCCTCTTTTCTCACTGTGAAGAACTGATGAGACAGAATTCCTGAGAAGGGAACATTTAGGTAATCTGGGATAGAAGGGCATGGAAGGACTGGACAAACTAAGCCTCCCCATGAAGGAAGGGAAAAGAATATTACAAAACAGACTAACAGAAAACAAGACCCATCAGTATCTTCAGGATAAACAAGAGGCCACTCTAGATGCTCTGATTAAAGGTTGTCCATGCCTACAGAGGCGGAGGATAAATCTAAGAAACAGAAATGTATAACCAGCCCAATGCTTCCATACTCTGCATTAGGTCAGTGTGAACATGGCTTTGCTCCCAATGGTCAGACCTGACATGGGTCCTTCTGAAGATGGTGGGTCAGGTATATCCCAGCCACCCTCACCAGAGAATACATCTATGACAAACCCAAATTCCTAATCCTGAAGTACTTTGAGCCACTCTACATTGTGGCCACTCAATAATAGAATAAATTTGTGAAAAAGCTGCATGTTTTAATTTAGGAAATGAGTAGAAGTTCACAAGCAACCCAGAATAGGTGCCAGCAGTTTGCTCCAGTGGGCCACACCACAGCAGCAGCTCAGGCTCTGCAGAATCACTGTGTCCAGTGCTTCCTGAGATGTTCTTTCAGCTGAGGAATGGAAGGCAGCAGCTGCTGGCACTCATGACAACGAAGGGGCAGCTTCAAGAGCTCAGGCATCCCATCTCGGACAGTTACTCTACCAGCCTCTTGTACCATCTCGATCACAGCTGCAGGCAAGGAAGAAAAGTCAAATCCCAGCTACTCTGGAAAACCAATATGAGATACCAAAAAAAAAAAAAAAAAATCAAAAACGTGACTCCAATCAGTATGCCAGGCCAGGTATTCTACAGCTCCGTAAGCTTAGTTTAGACTTCCCTCAGGCAAAATGAGCTTAATCAGATTATAAATATGAGCAACCCACCTTTGAAATAATACACTCCTTCAGGACACACTCTAGGCAATCCATGTTACTCTGTCAAGAGCTCATCAGAGTGCTTTACCTCTGGTTGGCCCTTGGTAAATGCCAGCTGCCATTGTGAACACCCCATCAATGCTTAAGTTCTTACACACCAGGAAATGCTTTCCTGGTGTGTAAGAAAGCATCACACACCAGAAAATGCTTTCTTCTACATATACACAGGGTTCCCCCTGCTAATTCACCACTCCTGACAGGAGGCAGCCCCAAAGCTCCCACCCAACTGATGGCAGAAGAGACAAAGAATTGTCCACAGCTTTCTTATCCATGAACTCCACTAATTCTCACGGCAGCCTTTAAGTCCCCTTTTGTCACAATAAAACACTGACCCTGACATAATAGCTTTCTAGGTCCCCCAAGAAGACAACTCACAGCAAAGTGGCAATAATACTACAATCCAAATAATCCAGTTTCTTTTCACAGGGCTCGCTTTATAGGGAACACAAAGTTGTACATAGGTTTTTGAGGTCAGACTGTTATTCAGGGAAACAACCAAATCAAATATAAGAACAGCTCAGAAAATGAAACAAATGTGAAAACCAAGGAACACTGTTTACCTTGTGATTCTAGGAAGTATTCTGTATTGAAAGAATTCCAATGTTTTTTGTTTTTAAGGCAAGGAGAATCAAAATCCTGGCTGATCCCATGAAGATGTACATGGCTAGTTGAAAGAAAAAAAAACTGAGCATTAAACTCTTTAACAACTATGGCTTAATCAAAATGACAAAGAGTATGAGTACATTGTATATTCATACTATTGAATACTCTTTGAATATTCATACTATTGAAGTGATAGTGTGTCCATTTAATTCAATTGATTCATTCATTTACTTAAGAATATTTAATGCTCAATAAGTATGTACTATGGCCAAACACTGTTCCAGGCACTGAGACTTTAGCAAGAAACAAAATGGGAAAAGCCTCTGCCCTTATAGAAATTGTACGCTAATGAGGAAAGACAAATAATAAATAAGCAAACAAATAAACAAACAAAAAAAAACTTAAAGAATTAACATTGCCAAGAAAAAATAAACAAGGAAAATGGGATAGAGTGCCCAGGGGTAGAAGCTGCCCTCTTTAGTTAACAGTGTTCAGGGAAAGCATCTCCCGGGAAGTGATTTGAACGGAGACAGCACCCAAGCAAGCTAGGTCTGTGGGAAGAGTGTCTCAGAAAGTGAGGAGGCCAAGAGCAGGGGCCCTGAGATGAGGAAAAGCTCAGTGCAACCAAGAAAGAGAAAGAAGGTAATATGGCCCAAATGTATGGCCTGAATTGTTGGAGCCAAGCAGCAGAAACGAGGCAGGAGCCAGGTCATAAAGCCTCTTAAAGGTGACAAAGGGTTTGCATTCTATTCTGAATCTACTGGGAAGCCATTGAAGGATTTTCAGCCGAAGAGTGCTACTATCTGATTTATACTCTTTTTTTTTGTTAACAATAAAAATTGAATTATAAAATGGACCACAATTTAAAAGTGGGCCTATTTTAATTTTATTATTCTTAAATTCATTCTTTTGAAAATGCAACCAGGTGCGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGCCCAACATGGTGAAACTAACTACTAAAAATACAAAAAACTAACTGGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAACCTGGGTGACAAAGTTAGACTCCATCACTAAAAAAAGAAGAAAAAGAAAAAGAAAATGCACTTTATTTTTGAAATGATAAAAGATTTAACTATGAGCTGACAAAGTAGAGGTCGGCTGACATTAGTGGGTCAACTCTTCATGTAGATATTTAAATGCTGTTTTTTCTGTATTACATCAAAATGATTTGCAATAGGAAATTGGAAAAGGGGAGCAAAGCAGAGTGCAAAGCATATACTGAGGTCTTTCCATGGGTATCTGATAGAATGCAGATTCAGCACAATAAAATGTAGACTGCAGCAGTGGCCTGTAAGTGTACTCCAAGCGTACCGTAAGAACCTATGTAAAAACCATTTTTTTCTTATTCCTAACAGAAAAACAAATTTTGTTTTGTTTAAACAATAAAATGTAATGGAAAGATCTGTACTGTAAAACTACTTGCTATAAACTATCACAAGGACAGAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAACTAAACAATGAGATCACTTGGACACAGGGCAGGGAACATCACATACCGGGGCCTGTCAGGGGGGTGGGGGGCTCGGGGAGGGACAACATTAAGAGAAATACCTAATGTAAATGATGAGTTGATGGGCGCAGCAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCCTGTTGTGCACATGGACCCTAGAACTTGAGTATAATAAAAAAAAATAAAAACTACTTGCTGTAGCCCATGTGTTCAGTTTGTTCAACAACCTCACTCACACATGATGAATTACATGAATAGAAAGTCACCAAATAAGACTCAAGACAAAAAAATTATCTATCAACCTCCATATGAAAAGACCACAGCTTTAATGATTTATACAATCCTTAAGCTTAATATCTGGTCAGTATAGGTTTCCAAATCAAAATC
|
Task1_train_12720
|
A genomic change on Chromosome 9 affects APTX (aprataxin). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
|
GAGCATTCTCCTTAGCACGACAACATTCACTGTAGGAAAAAGGTATGGGCATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAGCAGGTGTGCACCACCACCCTTGGCTAATTTTTTGTATTTTTTGTAGAGACAGGTTTTGCCATGTTGCCCAGACTGGGATCCCTAAATATTTACTCAAGGGGAAAAAAATAAATAAAGTACATATGTCTATGATATACACAATAACACACATGAATCTCAAAATTATGCTGACCCAAAAAAGCCAGACCAAAAAAGAGTATGCAATGTATGATTCCATTTATACATGGTAGCTCTAGAAGAGACAAAAACTATCTATGCTGAAGGAAATAAAAGCAATGCTTGAGGGAGGATTAACTGGAAAGGGGCACAAGGGAACTTTCTGGGATGAAAGGATAGACATCTTCTGTATCTTAATCAGAATGATAGTGAAAAGATTATACACGCTTATGAAAACTGATCAAACTATGCATCTTATTATGCACTTTATTGTATGTAAGTTATGCCTCAACTTAAAAGAATCAGTACTGACTAGGGAAAAATCTGGCACAAAGATTTCATTTGGTTCAAGTGGCCAGTAACCTAAGTCATAATTATTCACCTAAATAAAATGTGAGTGTTGGTAGTTAAAAAAAAATAAGCAGAGAAAATCCTGTCACATGCTACAACATGGATAAGACTTGAAGACATTATGTAAAGTAAAATAAGTAAGTAAATAAGTAAAATAAGCCAGTCACAAAAGGACAAATATGTCCTTGTATGATTCCTCTAATATGAGGTACCTAGAGTAGTCAAATTCACAGGGAAGGAAAGTACAATGGTGGTTGCCAGGAGTGGGAGGGGGAAATGGAGAGTTATTATTTAAGGTACAGAGTTTCAATTTGGGAAGAGAAAACAGTTCTGGAGATAGATGGTAGTAATGGTTGCATAGTAATATGAATATAGTAATGCCAATGAATTGTACACTTAAAGATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCTGATAAAAGCCACTGACCACAATTCTTTATCTGAGGATAATGAAGCTGCTTCATCTAGTTCATATATTAGGCTCTCGAAGATTTATATTTTGAGAGGAACAAAGAACCAAATATGACTGAATTATAGGCAGAAGTGGGAACTCAAAGCTTGCATGCAAGTCAGGCAGAGAGGTGGAAGCTTCAGCCCACCTGCTTTGGAAAAACTCCATCCCACTTCCCTGGGTCTCAGTGCAATATGTGCCCTCAGCAAGCCCAGGCTGAATCTATCTGCCCACCTGGACAGAACCAGGAGCCAGCAGCACTACCCACCTGGCTTACCTCATACTCGGAATGGCGTGGTAGCCCAATCGGAAGCGGAGTTTGCTGGACCCAGCAAAATCTACAATCACCTTTTCCCCCACAGTGTGCATATGCTTAAGGAGTTCAAGGTGTTCCCTGGCCACAGCCTTCAGACTGGAAATGGAGGTCCACGGTAAGACCAGCCAATGGTAACGGGCCTTTGGGTATTTATCCTTTATCACCACCACCTGCTCATCTTTGTAAACCTAGCAGAGGGATACAAGAGAAGGAAACAGACATCTACTAAGAATCTTCTGTGTGCCTGGTTGTTATATTCACTAAGTCACTTAATTCCCACAGTCTTGTGCAAATGGTTTTAATAGCCCAGTTTTGAGAGAGGAGAGCACTGAAATTCAGACAGGTTGAGTGTCTTGCACAAGTCATAGTTCCTAAGAGGGAAATCTAGGATTCCAACTCAGATGTGGTTGACTCCAGAGTCTGTTTTCAACCACCACACTACACAGAATACACAGAAGATGCACAGTACAAAATAGTTCCCAAGAATGTGATGTAAAATCTCTGTAGACATAAATTCAAAAGCATCCTTCTCCACTCCAACATGGCAGACTGTGTGACACGTACACGTGGGTTCCAGTGAGCCCTATTAGACCTGCCCCTTGTCAACAAGGAATATAATTGAAGTGGGACTCAAAGGCTCCTCAAGGATGATGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTGCAATCTCAGCTCACCGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCTCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGGATGTCTGACTGTTAATGCCAGGGCAGCACAGTACTACTGTCACAGTGTATTATCTCTGATGCTCCCCTGAAAGGAACCATACTAAGGTTAATGCAACTTCCCTTAAAGTACCCAGAAGTTTAAAAGGCACAAGGCAGAGGGGATATTCATTTGAAGAACTCAGCTTTCTCTCCAAACAATGACAGCTGCTACTTTATTGCCAATGTGAAAAGCCTCTTGTTCTCACAGAACAGCCCAATAAAATGAATCTCATTCAGAAAGACTGATATCCTTTGATTTCATTTGTAATTAAGACCTCTGTGGAGTGGTCATTTACAACATGAAATGTACTGAAATTCCAAAATTGTATTCTGACCTGCATTTTGGGGTCCTGCATAGAAATCTTCAAGCCTTGACTCCAGTGGCCCAGGGATTCCTAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAACAAGCAATGTAAATTACAAATGCCAATAATTAAATTTGGCAACAGTTAATACTGTGTGATAGCACAACTAAACTTGGAAATAAGCTTAGTTTTTGAGAATTAAACAAGATTCACTTGACTCTGCTTCACTCCATTGCCTTCCTATATTCTCTTTTTTTTTGAGACAAAGTCTCACTCTGTCTCACCCAAGCTGGAGTGCAGCGGCGTGATCACTGCAACCTCCGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAACTTTTGTATTTTTTAGTAGAGACGGAGTTTCACCAGGTTGGCCATGCTGGTCTTGAACTCCTCACCTCAGGTGATCCACTGGCCTCCACCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGACCCTATATTCTTTCTTTTTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATGCTCCTGCCCAGCCTCTGGAGTTGCTGGGATTATAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATTAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
|
GAGCATTCTCCTTAGCACGACAACATTCACTGTAGGAAAAAGGTATGGGCATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAGCAGGTGTGCACCACCACCCTTGGCTAATTTTTTGTATTTTTTGTAGAGACAGGTTTTGCCATGTTGCCCAGACTGGGATCCCTAAATATTTACTCAAGGGGAAAAAAATAAATAAAGTACATATGTCTATGATATACACAATAACACACATGAATCTCAAAATTATGCTGACCCAAAAAAGCCAGACCAAAAAAGAGTATGCAATGTATGATTCCATTTATACATGGTAGCTCTAGAAGAGACAAAAACTATCTATGCTGAAGGAAATAAAAGCAATGCTTGAGGGAGGATTAACTGGAAAGGGGCACAAGGGAACTTTCTGGGATGAAAGGATAGACATCTTCTGTATCTTAATCAGAATGATAGTGAAAAGATTATACACGCTTATGAAAACTGATCAAACTATGCATCTTATTATGCACTTTATTGTATGTAAGTTATGCCTCAACTTAAAAGAATCAGTACTGACTAGGGAAAAATCTGGCACAAAGATTTCATTTGGTTCAAGTGGCCAGTAACCTAAGTCATAATTATTCACCTAAATAAAATGTGAGTGTTGGTAGTTAAAAAAAAATAAGCAGAGAAAATCCTGTCACATGCTACAACATGGATAAGACTTGAAGACATTATGTAAAGTAAAATAAGTAAGTAAATAAGTAAAATAAGCCAGTCACAAAAGGACAAATATGTCCTTGTATGATTCCTCTAATATGAGGTACCTAGAGTAGTCAAATTCACAGGGAAGGAAAGTACAATGGTGGTTGCCAGGAGTGGGAGGGGGAAATGGAGAGTTATTATTTAAGGTACAGAGTTTCAATTTGGGAAGAGAAAACAGTTCTGGAGATAGATGGTAGTAATGGTTGCATAGTAATATGAATATAGTAATGCCAATGAATTGTACACTTAAAGATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCTGATAAAAGCCACTGACCACAATTCTTTATCTGAGGATAATGAAGCTGCTTCATCTAGTTCATATATTAGGCTCTCGAAGATTTATATTTTGAGAGGAACAAAGAACCAAATATGACTGAATTATAGGCAGAAGTGGGAACTCAAAGCTTGCATGCAAGTCAGGCAGAGAGGTGGAAGCTTCAGCCCACCTGCTTTGGAAAAACTCCATCCCACTTCCCTGGGTCTCAGTGCAATATGTGCCCTCAGCAAGCCCAGGCTGAATCTATCTGCCCACCTGGACAGAACCAGGAGCCAGCAGCACTACCCACCTGGCTTACCTCATACTCGGAATGGCGTGGTAGCCCAATCGGAAGCGGAGTTTGCTGGACCCAGCAAAATCTACAATCACCTTTTCCCCCACAGTGTGCATATGCTTAAGGAATTCAAGGTGTTCCCTGGCCACAGCCTTCAGACTGGAAATGGAGGTCCACGGTAAGACCAGCCAATGGTAACGGGCCTTTGGGTATTTATCCTTTATCACCACCACCTGCTCATCTTTGTAAACCTAGCAGAGGGATACAAGAGAAGGAAACAGACATCTACTAAGAATCTTCTGTGTGCCTGGTTGTTATATTCACTAAGTCACTTAATTCCCACAGTCTTGTGCAAATGGTTTTAATAGCCCAGTTTTGAGAGAGGAGAGCACTGAAATTCAGACAGGTTGAGTGTCTTGCACAAGTCATAGTTCCTAAGAGGGAAATCTAGGATTCCAACTCAGATGTGGTTGACTCCAGAGTCTGTTTTCAACCACCACACTACACAGAATACACAGAAGATGCACAGTACAAAATAGTTCCCAAGAATGTGATGTAAAATCTCTGTAGACATAAATTCAAAAGCATCCTTCTCCACTCCAACATGGCAGACTGTGTGACACGTACACGTGGGTTCCAGTGAGCCCTATTAGACCTGCCCCTTGTCAACAAGGAATATAATTGAAGTGGGACTCAAAGGCTCCTCAAGGATGATGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTGCAATCTCAGCTCACCGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCTCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGGATGTCTGACTGTTAATGCCAGGGCAGCACAGTACTACTGTCACAGTGTATTATCTCTGATGCTCCCCTGAAAGGAACCATACTAAGGTTAATGCAACTTCCCTTAAAGTACCCAGAAGTTTAAAAGGCACAAGGCAGAGGGGATATTCATTTGAAGAACTCAGCTTTCTCTCCAAACAATGACAGCTGCTACTTTATTGCCAATGTGAAAAGCCTCTTGTTCTCACAGAACAGCCCAATAAAATGAATCTCATTCAGAAAGACTGATATCCTTTGATTTCATTTGTAATTAAGACCTCTGTGGAGTGGTCATTTACAACATGAAATGTACTGAAATTCCAAAATTGTATTCTGACCTGCATTTTGGGGTCCTGCATAGAAATCTTCAAGCCTTGACTCCAGTGGCCCAGGGATTCCTAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAACAAGCAATGTAAATTACAAATGCCAATAATTAAATTTGGCAACAGTTAATACTGTGTGATAGCACAACTAAACTTGGAAATAAGCTTAGTTTTTGAGAATTAAACAAGATTCACTTGACTCTGCTTCACTCCATTGCCTTCCTATATTCTCTTTTTTTTTGAGACAAAGTCTCACTCTGTCTCACCCAAGCTGGAGTGCAGCGGCGTGATCACTGCAACCTCCGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAACTTTTGTATTTTTTAGTAGAGACGGAGTTTCACCAGGTTGGCCATGCTGGTCTTGAACTCCTCACCTCAGGTGATCCACTGGCCTCCACCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGACCCTATATTCTTTCTTTTTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATGCTCCTGCCCAGCCTCTGGAGTTGCTGGGATTATAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATTAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG
|
Task1_train_12721
|
A variant found in Chromosome 9 affects APTX (aprataxin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
|
ATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAGCAGGTGTGCACCACCACCCTTGGCTAATTTTTTGTATTTTTTGTAGAGACAGGTTTTGCCATGTTGCCCAGACTGGGATCCCTAAATATTTACTCAAGGGGAAAAAAATAAATAAAGTACATATGTCTATGATATACACAATAACACACATGAATCTCAAAATTATGCTGACCCAAAAAAGCCAGACCAAAAAAGAGTATGCAATGTATGATTCCATTTATACATGGTAGCTCTAGAAGAGACAAAAACTATCTATGCTGAAGGAAATAAAAGCAATGCTTGAGGGAGGATTAACTGGAAAGGGGCACAAGGGAACTTTCTGGGATGAAAGGATAGACATCTTCTGTATCTTAATCAGAATGATAGTGAAAAGATTATACACGCTTATGAAAACTGATCAAACTATGCATCTTATTATGCACTTTATTGTATGTAAGTTATGCCTCAACTTAAAAGAATCAGTACTGACTAGGGAAAAATCTGGCACAAAGATTTCATTTGGTTCAAGTGGCCAGTAACCTAAGTCATAATTATTCACCTAAATAAAATGTGAGTGTTGGTAGTTAAAAAAAAATAAGCAGAGAAAATCCTGTCACATGCTACAACATGGATAAGACTTGAAGACATTATGTAAAGTAAAATAAGTAAGTAAATAAGTAAAATAAGCCAGTCACAAAAGGACAAATATGTCCTTGTATGATTCCTCTAATATGAGGTACCTAGAGTAGTCAAATTCACAGGGAAGGAAAGTACAATGGTGGTTGCCAGGAGTGGGAGGGGGAAATGGAGAGTTATTATTTAAGGTACAGAGTTTCAATTTGGGAAGAGAAAACAGTTCTGGAGATAGATGGTAGTAATGGTTGCATAGTAATATGAATATAGTAATGCCAATGAATTGTACACTTAAAGATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCTGATAAAAGCCACTGACCACAATTCTTTATCTGAGGATAATGAAGCTGCTTCATCTAGTTCATATATTAGGCTCTCGAAGATTTATATTTTGAGAGGAACAAAGAACCAAATATGACTGAATTATAGGCAGAAGTGGGAACTCAAAGCTTGCATGCAAGTCAGGCAGAGAGGTGGAAGCTTCAGCCCACCTGCTTTGGAAAAACTCCATCCCACTTCCCTGGGTCTCAGTGCAATATGTGCCCTCAGCAAGCCCAGGCTGAATCTATCTGCCCACCTGGACAGAACCAGGAGCCAGCAGCACTACCCACCTGGCTTACCTCATACTCGGAATGGCGTGGTAGCCCAATCGGAAGCGGAGTTTGCTGGACCCAGCAAAATCTACAATCACCTTTTCCCCCACAGTGTGCATATGCTTAAGGAGTTCAAGGTGTTCCCTGGCCACAGCCTTCAGACTGGAAATGGAGGTCCACGGTAAGACCAGCCAATGGTAACGGGCCTTTGGGTATTTATCCTTTATCACCACCACCTGCTCATCTTTGTAAACCTAGCAGAGGGATACAAGAGAAGGAAACAGACATCTACTAAGAATCTTCTGTGTGCCTGGTTGTTATATTCACTAAGTCACTTAATTCCCACAGTCTTGTGCAAATGGTTTTAATAGCCCAGTTTTGAGAGAGGAGAGCACTGAAATTCAGACAGGTTGAGTGTCTTGCACAAGTCATAGTTCCTAAGAGGGAAATCTAGGATTCCAACTCAGATGTGGTTGACTCCAGAGTCTGTTTTCAACCACCACACTACACAGAATACACAGAAGATGCACAGTACAAAATAGTTCCCAAGAATGTGATGTAAAATCTCTGTAGACATAAATTCAAAAGCATCCTTCTCCACTCCAACATGGCAGACTGTGTGACACGTACACGTGGGTTCCAGTGAGCCCTATTAGACCTGCCCCTTGTCAACAAGGAATATAATTGAAGTGGGACTCAAAGGCTCCTCAAGGATGATGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTGCAATCTCAGCTCACCGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCTCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGGATGTCTGACTGTTAATGCCAGGGCAGCACAGTACTACTGTCACAGTGTATTATCTCTGATGCTCCCCTGAAAGGAACCATACTAAGGTTAATGCAACTTCCCTTAAAGTACCCAGAAGTTTAAAAGGCACAAGGCAGAGGGGATATTCATTTGAAGAACTCAGCTTTCTCTCCAAACAATGACAGCTGCTACTTTATTGCCAATGTGAAAAGCCTCTTGTTCTCACAGAACAGCCCAATAAAATGAATCTCATTCAGAAAGACTGATATCCTTTGATTTCATTTGTAATTAAGACCTCTGTGGAGTGGTCATTTACAACATGAAATGTACTGAAATTCCAAAATTGTATTCTGACCTGCATTTTGGGGTCCTGCATAGAAATCTTCAAGCCTTGACTCCAGTGGCCCAGGGATTCCTAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAACAAGCAATGTAAATTACAAATGCCAATAATTAAATTTGGCAACAGTTAATACTGTGTGATAGCACAACTAAACTTGGAAATAAGCTTAGTTTTTGAGAATTAAACAAGATTCACTTGACTCTGCTTCACTCCATTGCCTTCCTATATTCTCTTTTTTTTTGAGACAAAGTCTCACTCTGTCTCACCCAAGCTGGAGTGCAGCGGCGTGATCACTGCAACCTCCGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAACTTTTGTATTTTTTAGTAGAGACGGAGTTTCACCAGGTTGGCCATGCTGGTCTTGAACTCCTCACCTCAGGTGATCCACTGGCCTCCACCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGACCCTATATTCTTTCTTTTTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATGCTCCTGCCCAGCCTCTGGAGTTGCTGGGATTATAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATTAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACACCCAGCTGTTTTTTATTATTGTTGTTGTTTTTTGAGAT
|
ATCACGATCACTACGTGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAGCAGGTGTGCACCACCACCCTTGGCTAATTTTTTGTATTTTTTGTAGAGACAGGTTTTGCCATGTTGCCCAGACTGGGATCCCTAAATATTTACTCAAGGGGAAAAAAATAAATAAAGTACATATGTCTATGATATACACAATAACACACATGAATCTCAAAATTATGCTGACCCAAAAAAGCCAGACCAAAAAAGAGTATGCAATGTATGATTCCATTTATACATGGTAGCTCTAGAAGAGACAAAAACTATCTATGCTGAAGGAAATAAAAGCAATGCTTGAGGGAGGATTAACTGGAAAGGGGCACAAGGGAACTTTCTGGGATGAAAGGATAGACATCTTCTGTATCTTAATCAGAATGATAGTGAAAAGATTATACACGCTTATGAAAACTGATCAAACTATGCATCTTATTATGCACTTTATTGTATGTAAGTTATGCCTCAACTTAAAAGAATCAGTACTGACTAGGGAAAAATCTGGCACAAAGATTTCATTTGGTTCAAGTGGCCAGTAACCTAAGTCATAATTATTCACCTAAATAAAATGTGAGTGTTGGTAGTTAAAAAAAAATAAGCAGAGAAAATCCTGTCACATGCTACAACATGGATAAGACTTGAAGACATTATGTAAAGTAAAATAAGTAAGTAAATAAGTAAAATAAGCCAGTCACAAAAGGACAAATATGTCCTTGTATGATTCCTCTAATATGAGGTACCTAGAGTAGTCAAATTCACAGGGAAGGAAAGTACAATGGTGGTTGCCAGGAGTGGGAGGGGGAAATGGAGAGTTATTATTTAAGGTACAGAGTTTCAATTTGGGAAGAGAAAACAGTTCTGGAGATAGATGGTAGTAATGGTTGCATAGTAATATGAATATAGTAATGCCAATGAATTGTACACTTAAAGATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCTGATAAAAGCCACTGACCACAATTCTTTATCTGAGGATAATGAAGCTGCTTCATCTAGTTCATATATTAGGCTCTCGAAGATTTATATTTTGAGAGGAACAAAGAACCAAATATGACTGAATTATAGGCAGAAGTGGGAACTCAAAGCTTGCATGCAAGTCAGGCAGAGAGGTGGAAGCTTCAGCCCACCTGCTTTGGAAAAACTCCATCCCACTTCCCTGGGTCTCAGTGCAATATGTGCCCTCAGCAAGCCCAGGCTGAATCTATCTGCCCACCTGGACAGAACCAGGAGCCAGCAGCACTACCCACCTGGCTTACCTCATACTCGGAATGGCGTGGTAGCCCAATCGGAAGCGGAGTTTGCTGGACCCAGCAAAATCTACAATCACCTTTTCCCCCACAGTGTGCATATGCTTAAGGAGTTCAAGGTGTTCCCTGGCCACAGCCTTCAGACTGGAAATGGAGGTCCACAGTAAGACCAGCCAATGGTAACGGGCCTTTGGGTATTTATCCTTTATCACCACCACCTGCTCATCTTTGTAAACCTAGCAGAGGGATACAAGAGAAGGAAACAGACATCTACTAAGAATCTTCTGTGTGCCTGGTTGTTATATTCACTAAGTCACTTAATTCCCACAGTCTTGTGCAAATGGTTTTAATAGCCCAGTTTTGAGAGAGGAGAGCACTGAAATTCAGACAGGTTGAGTGTCTTGCACAAGTCATAGTTCCTAAGAGGGAAATCTAGGATTCCAACTCAGATGTGGTTGACTCCAGAGTCTGTTTTCAACCACCACACTACACAGAATACACAGAAGATGCACAGTACAAAATAGTTCCCAAGAATGTGATGTAAAATCTCTGTAGACATAAATTCAAAAGCATCCTTCTCCACTCCAACATGGCAGACTGTGTGACACGTACACGTGGGTTCCAGTGAGCCCTATTAGACCTGCCCCTTGTCAACAAGGAATATAATTGAAGTGGGACTCAAAGGCTCCTCAAGGATGATGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTGCAATCTCAGCTCACCGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCTCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGGATGTCTGACTGTTAATGCCAGGGCAGCACAGTACTACTGTCACAGTGTATTATCTCTGATGCTCCCCTGAAAGGAACCATACTAAGGTTAATGCAACTTCCCTTAAAGTACCCAGAAGTTTAAAAGGCACAAGGCAGAGGGGATATTCATTTGAAGAACTCAGCTTTCTCTCCAAACAATGACAGCTGCTACTTTATTGCCAATGTGAAAAGCCTCTTGTTCTCACAGAACAGCCCAATAAAATGAATCTCATTCAGAAAGACTGATATCCTTTGATTTCATTTGTAATTAAGACCTCTGTGGAGTGGTCATTTACAACATGAAATGTACTGAAATTCCAAAATTGTATTCTGACCTGCATTTTGGGGTCCTGCATAGAAATCTTCAAGCCTTGACTCCAGTGGCCCAGGGATTCCTAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAACAAGCAATGTAAATTACAAATGCCAATAATTAAATTTGGCAACAGTTAATACTGTGTGATAGCACAACTAAACTTGGAAATAAGCTTAGTTTTTGAGAATTAAACAAGATTCACTTGACTCTGCTTCACTCCATTGCCTTCCTATATTCTCTTTTTTTTTGAGACAAAGTCTCACTCTGTCTCACCCAAGCTGGAGTGCAGCGGCGTGATCACTGCAACCTCCGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAACTTTTGTATTTTTTAGTAGAGACGGAGTTTCACCAGGTTGGCCATGCTGGTCTTGAACTCCTCACCTCAGGTGATCCACTGGCCTCCACCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGACCCTATATTCTTTCTTTTTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATGCTCCTGCCCAGCCTCTGGAGTTGCTGGGATTATAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATTAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACACCCAGCTGTTTTTTATTATTGTTGTTGTTTTTTGAGAT
|
Task1_train_12722
|
This gene mutation involves APTX (aprataxin) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
|
TGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAGCAGGTGTGCACCACCACCCTTGGCTAATTTTTTGTATTTTTTGTAGAGACAGGTTTTGCCATGTTGCCCAGACTGGGATCCCTAAATATTTACTCAAGGGGAAAAAAATAAATAAAGTACATATGTCTATGATATACACAATAACACACATGAATCTCAAAATTATGCTGACCCAAAAAAGCCAGACCAAAAAAGAGTATGCAATGTATGATTCCATTTATACATGGTAGCTCTAGAAGAGACAAAAACTATCTATGCTGAAGGAAATAAAAGCAATGCTTGAGGGAGGATTAACTGGAAAGGGGCACAAGGGAACTTTCTGGGATGAAAGGATAGACATCTTCTGTATCTTAATCAGAATGATAGTGAAAAGATTATACACGCTTATGAAAACTGATCAAACTATGCATCTTATTATGCACTTTATTGTATGTAAGTTATGCCTCAACTTAAAAGAATCAGTACTGACTAGGGAAAAATCTGGCACAAAGATTTCATTTGGTTCAAGTGGCCAGTAACCTAAGTCATAATTATTCACCTAAATAAAATGTGAGTGTTGGTAGTTAAAAAAAAATAAGCAGAGAAAATCCTGTCACATGCTACAACATGGATAAGACTTGAAGACATTATGTAAAGTAAAATAAGTAAGTAAATAAGTAAAATAAGCCAGTCACAAAAGGACAAATATGTCCTTGTATGATTCCTCTAATATGAGGTACCTAGAGTAGTCAAATTCACAGGGAAGGAAAGTACAATGGTGGTTGCCAGGAGTGGGAGGGGGAAATGGAGAGTTATTATTTAAGGTACAGAGTTTCAATTTGGGAAGAGAAAACAGTTCTGGAGATAGATGGTAGTAATGGTTGCATAGTAATATGAATATAGTAATGCCAATGAATTGTACACTTAAAGATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCTGATAAAAGCCACTGACCACAATTCTTTATCTGAGGATAATGAAGCTGCTTCATCTAGTTCATATATTAGGCTCTCGAAGATTTATATTTTGAGAGGAACAAAGAACCAAATATGACTGAATTATAGGCAGAAGTGGGAACTCAAAGCTTGCATGCAAGTCAGGCAGAGAGGTGGAAGCTTCAGCCCACCTGCTTTGGAAAAACTCCATCCCACTTCCCTGGGTCTCAGTGCAATATGTGCCCTCAGCAAGCCCAGGCTGAATCTATCTGCCCACCTGGACAGAACCAGGAGCCAGCAGCACTACCCACCTGGCTTACCTCATACTCGGAATGGCGTGGTAGCCCAATCGGAAGCGGAGTTTGCTGGACCCAGCAAAATCTACAATCACCTTTTCCCCCACAGTGTGCATATGCTTAAGGAGTTCAAGGTGTTCCCTGGCCACAGCCTTCAGACTGGAAATGGAGGTCCACGGTAAGACCAGCCAATGGTAACGGGCCTTTGGGTATTTATCCTTTATCACCACCACCTGCTCATCTTTGTAAACCTAGCAGAGGGATACAAGAGAAGGAAACAGACATCTACTAAGAATCTTCTGTGTGCCTGGTTGTTATATTCACTAAGTCACTTAATTCCCACAGTCTTGTGCAAATGGTTTTAATAGCCCAGTTTTGAGAGAGGAGAGCACTGAAATTCAGACAGGTTGAGTGTCTTGCACAAGTCATAGTTCCTAAGAGGGAAATCTAGGATTCCAACTCAGATGTGGTTGACTCCAGAGTCTGTTTTCAACCACCACACTACACAGAATACACAGAAGATGCACAGTACAAAATAGTTCCCAAGAATGTGATGTAAAATCTCTGTAGACATAAATTCAAAAGCATCCTTCTCCACTCCAACATGGCAGACTGTGTGACACGTACACGTGGGTTCCAGTGAGCCCTATTAGACCTGCCCCTTGTCAACAAGGAATATAATTGAAGTGGGACTCAAAGGCTCCTCAAGGATGATGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTGCAATCTCAGCTCACCGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCTCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGGATGTCTGACTGTTAATGCCAGGGCAGCACAGTACTACTGTCACAGTGTATTATCTCTGATGCTCCCCTGAAAGGAACCATACTAAGGTTAATGCAACTTCCCTTAAAGTACCCAGAAGTTTAAAAGGCACAAGGCAGAGGGGATATTCATTTGAAGAACTCAGCTTTCTCTCCAAACAATGACAGCTGCTACTTTATTGCCAATGTGAAAAGCCTCTTGTTCTCACAGAACAGCCCAATAAAATGAATCTCATTCAGAAAGACTGATATCCTTTGATTTCATTTGTAATTAAGACCTCTGTGGAGTGGTCATTTACAACATGAAATGTACTGAAATTCCAAAATTGTATTCTGACCTGCATTTTGGGGTCCTGCATAGAAATCTTCAAGCCTTGACTCCAGTGGCCCAGGGATTCCTAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAACAAGCAATGTAAATTACAAATGCCAATAATTAAATTTGGCAACAGTTAATACTGTGTGATAGCACAACTAAACTTGGAAATAAGCTTAGTTTTTGAGAATTAAACAAGATTCACTTGACTCTGCTTCACTCCATTGCCTTCCTATATTCTCTTTTTTTTTGAGACAAAGTCTCACTCTGTCTCACCCAAGCTGGAGTGCAGCGGCGTGATCACTGCAACCTCCGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAACTTTTGTATTTTTTAGTAGAGACGGAGTTTCACCAGGTTGGCCATGCTGGTCTTGAACTCCTCACCTCAGGTGATCCACTGGCCTCCACCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGACCCTATATTCTTTCTTTTTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATGCTCCTGCCCAGCCTCTGGAGTTGCTGGGATTATAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATTAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACACCCAGCTGTTTTTTATTATTGTTGTTGTTTTTTGAGATGGAGTCTCGCTCTGT
|
TGAAAAGGGCTCAGTGGCCAAGGGCTCTGTTAGTCAGGGGCTCTGCATTAGGGAAACAGGATTATGGGTGACTTTCCCTCCTAAATTTTCAAATCAGCCTTTAACAATAAAAATATATTTATATTTTTAAAGTGAGGTACAACATACATCCACCCTATGACCTAACAATTCCATCTCCAAATATTTATTCTTTTTTTTTCTTCTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTACAATGGCGTGATCATAGCTTACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCAACTCAACCTCCCAAGTAGCAGGTGTGCACCACCACCCTTGGCTAATTTTTTGTATTTTTTGTAGAGACAGGTTTTGCCATGTTGCCCAGACTGGGATCCCTAAATATTTACTCAAGGGGAAAAAAATAAATAAAGTACATATGTCTATGATATACACAATAACACACATGAATCTCAAAATTATGCTGACCCAAAAAAGCCAGACCAAAAAAGAGTATGCAATGTATGATTCCATTTATACATGGTAGCTCTAGAAGAGACAAAAACTATCTATGCTGAAGGAAATAAAAGCAATGCTTGAGGGAGGATTAACTGGAAAGGGGCACAAGGGAACTTTCTGGGATGAAAGGATAGACATCTTCTGTATCTTAATCAGAATGATAGTGAAAAGATTATACACGCTTATGAAAACTGATCAAACTATGCATCTTATTATGCACTTTATTGTATGTAAGTTATGCCTCAACTTAAAAGAATCAGTACTGACTAGGGAAAAATCTGGCACAAAGATTTCATTTGGTTCAAGTGGCCAGTAACCTAAGTCATAATTATTCACCTAAATAAAATGTGAGTGTTGGTAGTTAAAAAAAAATAAGCAGAGAAAATCCTGTCACATGCTACAACATGGATAAGACTTGAAGACATTATGTAAAGTAAAATAAGTAAGTAAATAAGTAAAATAAGCCAGTCACAAAAGGACAAATATGTCCTTGTATGATTCCTCTAATATGAGGTACCTAGAGTAGTCAAATTCACAGGGAAGGAAAGTACAATGGTGGTTGCCAGGAGTGGGAGGGGGAAATGGAGAGTTATTATTTAAGGTACAGAGTTTCAATTTGGGAAGAGAAAACAGTTCTGGAGATAGATGGTAGTAATGGTTGCATAGTAATATGAATATAGTAATGCCAATGAATTGTACACTTAAAGATGACTAAAATGTAAATTTTGTTATGTATATTATATCACAGTTTTTTAAAAACAAAATAAAAACTCTAAAATCTAGACTTATCATCTTATTGCTTAAATCAAAGAAATCACGGAGATCCACCTTGCTTGTATTCTTTGAAAGAAATCAGTCATTCCTTTCTGAATCCTTCTGGGCATAAGCCACAGGAAAACAAATTCTATACTTTTCTCTCATTTTATTTTCAAATCCTGGATCTACTACGCTGTCATTACAGAAGTCTATGATGTTTGTTTCCTTCAGAGTAATGGTCCTTAATCATTCTGGGGTTATAGACGCTTTTGAAGAATCTGATAAAAGCCACTGACCACAATTCTTTATCTGAGGATAATGAAGCTGCTTCATCTAGTTCATATATTAGGCTCTCGAAGATTTATATTTTGAGAGGAACAAAGAACCAAATATGACTGAATTATAGGCAGAAGTGGGAACTCAAAGCTTGCATGCAAGTCAGGCAGAGAGGTGGAAGCTTCAGCCCACCTGCTTTGGAAAAACTCCATCCCACTTCCCTGGGTCTCAGTGCAATATGTGCCCTCAGCAAGCCCAGGCTGAATCTATCTGCCCACCTGGACAGAACCAGGAGCCAGCAGCACTACCCACCTGGCTTACCTCATACTCGGAATGGCGTGGTAGCCCAATCGGAAGCGGAGTTTGCTGGACCCAGCAAAATCTACAATCACCTTTTCCCCCACAGTGTGCATATGCTTAAGGAGTTCAAGGTGTTCCCTGGCCACAGCCTTCAGACTGGAAATGGAGGTCCACGGTAAGACCAGCCAACGGTAACGGGCCTTTGGGTATTTATCCTTTATCACCACCACCTGCTCATCTTTGTAAACCTAGCAGAGGGATACAAGAGAAGGAAACAGACATCTACTAAGAATCTTCTGTGTGCCTGGTTGTTATATTCACTAAGTCACTTAATTCCCACAGTCTTGTGCAAATGGTTTTAATAGCCCAGTTTTGAGAGAGGAGAGCACTGAAATTCAGACAGGTTGAGTGTCTTGCACAAGTCATAGTTCCTAAGAGGGAAATCTAGGATTCCAACTCAGATGTGGTTGACTCCAGAGTCTGTTTTCAACCACCACACTACACAGAATACACAGAAGATGCACAGTACAAAATAGTTCCCAAGAATGTGATGTAAAATCTCTGTAGACATAAATTCAAAAGCATCCTTCTCCACTCCAACATGGCAGACTGTGTGACACGTACACGTGGGTTCCAGTGAGCCCTATTAGACCTGCCCCTTGTCAACAAGGAATATAATTGAAGTGGGACTCAAAGGCTCCTCAAGGATGATGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGTGCAATCTCAGCTCACCGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGAGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCCTCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGGATGTCTGACTGTTAATGCCAGGGCAGCACAGTACTACTGTCACAGTGTATTATCTCTGATGCTCCCCTGAAAGGAACCATACTAAGGTTAATGCAACTTCCCTTAAAGTACCCAGAAGTTTAAAAGGCACAAGGCAGAGGGGATATTCATTTGAAGAACTCAGCTTTCTCTCCAAACAATGACAGCTGCTACTTTATTGCCAATGTGAAAAGCCTCTTGTTCTCACAGAACAGCCCAATAAAATGAATCTCATTCAGAAAGACTGATATCCTTTGATTTCATTTGTAATTAAGACCTCTGTGGAGTGGTCATTTACAACATGAAATGTACTGAAATTCCAAAATTGTATTCTGACCTGCATTTTGGGGTCCTGCATAGAAATCTTCAAGCCTTGACTCCAGTGGCCCAGGGATTCCTAAAAAAAAAACAAAAAAAAAAACAAAAAAAAAAAAAAACAAGCAATGTAAATTACAAATGCCAATAATTAAATTTGGCAACAGTTAATACTGTGTGATAGCACAACTAAACTTGGAAATAAGCTTAGTTTTTGAGAATTAAACAAGATTCACTTGACTCTGCTTCACTCCATTGCCTTCCTATATTCTCTTTTTTTTTGAGACAAAGTCTCACTCTGTCTCACCCAAGCTGGAGTGCAGCGGCGTGATCACTGCAACCTCCGAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAACTTTTGTATTTTTTAGTAGAGACGGAGTTTCACCAGGTTGGCCATGCTGGTCTTGAACTCCTCACCTCAGGTGATCCACTGGCCTCCACCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGACCCTATATTCTTTCTTTTTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATGCTCCTGCCCAGCCTCTGGAGTTGCTGGGATTATAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATTAGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGCACACCCAGCTGTTTTTTATTATTGTTGTTGTTTTTTGAGATGGAGTCTCGCTCTGT
|
Task1_train_12723
|
Located on Chromosome 9, this mutation impacts B4GALT1 (beta-1,4-galactosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Combined low LDL and fibrinogen
|
AACCTGAGCCCAGGCTGGACCTGGCAAAGGCGCTCAGTGGTAGGAGTGCCTTGTGTCATCTCATCCCAGGTGGCTCAATAGCTCCCAACAGAGGTGGGTTTGTGACAGACAGCCCTGTGGGTGGGAGCCTCAACTGGGGTGGGAGCACCTGTGAAAACCTGAGGTGGAACAGGAGGCTTTAGGCACCGAAGTTCTTGGGAGGGAGTTGGGGTGTGGGTTCGGCTGAACTTCTTTCTAGATCACTAATTAAAAGGCACATTCATGCTGGGGAATGGATAGTCTGTTTGACCCTGAGTGCCACAGTCAAGTTTTAGGGGACAGGCAAGAGGCAAAGGAACAAAAAGGGAGACGAAGGAAGGAATGAGAAAGGCAGGGGAAAAGAGGAAGGAGGAAGAACTGGTAACAAAGGGTGGGCCACGGAGTGTGGCTAGCAGAGCCTCTGAGGGAGGTGGCCCCCACCAGAACAGAGGCTCCCTCTGCCTGGGGAGGTGCAAAGGGCTGGTAAACAACCTGACTGCTGTTATTTACAACCCCCCAGCCTAGGGGCCTGAGGGGTCAGTCTAAGGAGGCTGAGGCTCCCTCCGCCCTGCCCACCTGGGGAGGGTTGGGGAAGTGGAGAGTTCTGCACAGTAGGTGCAGAGGCTTCTGTCTCCCAGGTATCCTCCCCGAGGTCTGGCAGGATAATGCTGACCGGGAGGCCTTACCTGCCAAGGGGCCAGAGGGTGATTTTGCTCTTGAGAAAACCTGGCCTGCCAGCTAAATCATAGGCCTATTTGTGGCCACTACAGCATATATTTATTTTTCTCCCTAAAAAATGCTCAATACCCCTCCCCATATTTAAAACACCACAATAAAAATACATAGGAAATTCAAGTTTACATAGCATGCCAAGAAAAATAAATTGTCATGACTTAACATTAAACAGCTATGCAAATTTGGATCAACACAAAATCAAGCTAGATCATAATTAGAACTCGATCTGTTCTTTCTTTAAAATACTACAAACTACTATTTAAAAAAAAACACAACAACTTTACATTCAGAAATCAGACAATCTGGAGATAGGCCACTGAATGCGAGAAACCCAAGGCTTTTGCTCTGATGCTAGAGTTGCCCTGGAATCCACACACATAGGACAAAAGGTCCAGGGCTCAAGTTTTAAAATCCTTTTGCTAAGAAAAGACATATGCACAGTGATTGCAGTGGTTGCATACCACTGAAAGAAGGGGGTGGGGGGAGGACGTAACATTAAGAATGGTTGAAATTTTGTGTTTTTCTGTTAAATTACAACTACCAAAAAGATCACACCAATCCAATTTTAGCAGCACTCTCCGAATTTTCACGAATAAGAAAACCATAATTTAAAGAAAAATTCTAACCTATTTCACGACAATTTAGCAATTCTATCACCGGGAATGTGTTCCACGGCCACCAAATTTTGGGATGTGTACAGTTCTGACTCTGGGGTGACACTGCGAACACATCAAGAAACCCGCAAAGGCATAAACACCTTGCAGAGCTAAGAATTCACATGCCGAGCCAAGTTGGGGGCAAAATATCCCACTCGTCCTGGTCATCTGGAAAGCCATCTGAATGATGAGCGAAGGGGACCTGTCACTCAGACTGGTAAAAATGAGAGGGACCAGCCCAGCAGATTGGCAGAGACACACAGCAGAGGTCCCTGGCTAATTTCAGGTCTCTTATCCGTGTACCAAAACGCTAGCTCGGTGTCCCGATGTCCACTGTGATTTGGGTATACAATGGGTATCTCTGTACATCCAGCACCTGGTAGGTGAGTGAGTTCAAACCATCAGAGAGCATTGTCTCCTTTGTGTGTGCAATTCGGTCAAACCTACAAGGAAAAGAGCACAAGGAGATTGTCTTAAAACAAAAATCTTAAGAAGAAATCATCACACGTACTTCCTCCTCCCTCTCCACTGTAACCTGACCACCTCAATTTCCCTCTAGGCCCAGAGCCTCGGACCTGCAGCCTACCTCATCCTAAAGGGGGAAGGAGTATGAATAAACAAAGAATGCACCTCTGAGGATTGGGTTCATTTTTCTTGTCTCTTGAGTGGCGGATCATGCGACACCTCCCGACCACAGCATTTGGGCGAGATATAGACATGCCTCTAAAAACTAATCTGCAAAGAGTAAAGGGAAAGTCATTATCACAGAGCTGCCATACACTTGGCCTGAGAGCCCCGGCTGCAAGACTGTTGCTCCATCCACCATCACCCTTGCTGTTCTCACTCAGCCCACAACCCAGCATCATGCCAGAACCCAGCCCAGCATGACCCTGGTTAAAACTCACATTCCGACTCCATGTCCTTTTACAACTGGTTCTGCGGTTTGTGGTGTTGACTACCATGTGCCAGACACTGGGGCCGTGTGCCCCACAGAATATACAGTGTGAATGCTTCAAACATAGGGCCTTTAGGGCCAGGATGGAGGTGAGAAGAGGAAGATGAGGTTGGAGACACAGAGGAAGAAGCATAGAGTTTGTAACCTCTGCTGGAGCAAGCCTAGGCAGAGCCCAGTTGAGGATGAACAGGTATCTGCCATAGCATTTTGGGCAGCCAGGATGGCACAGGCAAAGGCATGGAAGTGAGAGCAAGCCTAGTGCCCTCAGGGAGCAACGTAAGCTCCTGGGGACTGGTGACAAGGGTCTGGGGTAGGACGTGGCAGGTGATGGGCTGAAAAGGGCCAGGCTAAGTCACAGAGGCCTTCTCAGAGCATCCCACAAACGGTTGCCAGTATCTGAAAGGGGCCTAATATACAGTATTTCCAAAATGCTTTTAGCCATGGGGAAGTCTCTGGAAAGTAGTATACGAATGGAGGGCTTCAGAACATGTGGGAAAAGGCAGAAAAAAACAAATGGAGGGCTGAGAACAAGACTAGAGGCAGCCAGAACAGGGTGGAGGATTCTGTGTTGGTCCAAGGAAAAGGAATGAGGACCAAAATGAAAGCCTGGAGAGCAGGACAGCAAAGTTAGTTAAGAGGCAGAACTGGCTGATCCCAGACCACTTAAACATTCCTGGCCTTGCCTGGCACACAGTAAGTGGTGCATAGAAAGTGTTAGGTCCTTTATCTTTCAAGAAAGTTGCTCCACACACCACCCATCCTTCTAGTGCCACTGCGTTAGCATGGGACTAGATGCCTGCGGATGCTCCCTCCCTCCCCAGCTGTTCTGACCATTCAGACCTGTGGTATCCTGTCGGCCCTGCACACTGTCATATCAGTCCAGAGTGTCTGCCCAGGAGTGCCTCTGTGGAAGCAGGCTTGCTTCTGTCTGGACCCTATGTCCAGGTTTTCAGTGTCCTGGGCCTGCCTGGCACAGTGCTCTGTATGCAGCAGATGTTCAATGTGCACACACTTGATACCCCATCTACATACTAAAACTGGAGTTTCCTTCAAGGCTTATATTGAAGACGTGGGTCTCTGTTAAGTTTGCACACAATGGTAACTTGAATGACTTGGGTGTTGCTCTGACAGACACCTTCTGTTAACTGGTACTGCAATTTAGAAAGGCTGCACCAGGGTGTATTCTGATATTAAACTCAGTAATGAGCTCAGACTGGCTCCTGGAGGGAGAAGGTGCTCATCGGTGGCTGGTGGGGTTGAAGCCTCTACAGCCAGAGGACTGAGCAGAATGTTCTTTCAAATGCTACTGATAGATGTTTTTTACCACTGTAAATGACAACCCACATCATAATGATTTACCAGCTTAAAAAGAGCCCCAGGATGTGGATGGGACAGAACTGACCAGGCCATAATGGTTGCTGGGGCTGGATAGGTCCTCAAAGGTTTATTATACTACAGTATCTCTTTTGTATATGTGAAAATACTCCAAAATAAAAATATAACACAAAGCTTCTGTGAAGACAGTTAGGATTCTGCTCAAGGAAACTTGTTTCACAGTGAAAGGGGACCATAATGAAAGGAGGGATTTTTACAAAGGACATTGGTTTACTCCTTGAGTACAAAACGGCATGCAGCAAGTCAAAGTAAACTTGCCCCGTCACTTGGTTCCCATTTGACATTTTTCCAGGCCAATACAAAAATCTCAGAAACTCATTTTCCTACAGATCCCTTT
|
AACCTGAGCCCAGGCTGGACCTGGCAAAGGCGCTCAGTGGTAGGAGTGCCTTGTGTCATCTCATCCCAGGTGGCTCAATAGCTCCCAACAGAGGTGGGTTTGTGACAGACAGCCCTGTGGGTGGGAGCCTCAACTGGGGTGGGAGCACCTGTGAAAACCTGAGGTGGAACAGGAGGCTTTAGGCACCGAAGTTCTTGGGAGGGAGTTGGGGTGTGGGTTCGGCTGAACTTCTTTCTAGATCACTAATTAAAAGGCACATTCATGCTGGGGAATGGATAGTCTGTTTGACCCTGAGTGCCACAGTCAAGTTTTAGGGGACAGGCAAGAGGCAAAGGAACAAAAAGGGAGACGAAGGAAGGAATGAGAAAGGCAGGGGAAAAGAGGAAGGAGGAAGAACTGGTAACAAAGGGTGGGCCACGGAGTGTGGCTAGCAGAGCCTCTGAGGGAGGTGGCCCCCACCAGAACAGAGGCTCCCTCTGCCTGGGGAGGTGCAAAGGGCTGGTAAACAACCTGACTGCTGTTATTTACAACCCCCCAGCCTAGGGGCCTGAGGGGTCAGTCTAAGGAGGCTGAGGCTCCCTCCGCCCTGCCCACCTGGGGAGGGTTGGGGAAGTGGAGAGTTCTGCACAGTAGGTGCAGAGGCTTCTGTCTCCCAGGTATCCTCCCCGAGGTCTGGCAGGATAATGCTGACCGGGAGGCCTTACCTGCCAAGGGGCCAGAGGGTGATTTTGCTCTTGAGAAAACCTGGCCTGCCAGCTAAATCATAGGCCTATTTGTGGCCACTACAGCATATATTTATTTTTCTCCCTAAAAAATGCTCAATACCCCTCCCCATATTTAAAACACCACAATAAAAATACATAGGAAATTCAAGTTTACATAGCATGCCAAGAAAAATAAATTGTCATGACTTAACATTAAACAGCTATGCAAATTTGGATCAACACAAAATCAAGCTAGATCATAATTAGAACTCGATCTGTTCTTTCTTTAAAATACTACAAACTACTATTTAAAAAAAAACACAACAACTTTACATTCAGAAATCAGACAATCTGGAGATAGGCCACTGAATGCGAGAAACCCAAGGCTTTTGCTCTGATGCTAGAGTTGCCCTGGAATCCACACACATAGGACAAAAGGTCCAGGGCTCAAGTTTTAAAATCCTTTTGCTAAGAAAAGACATATGCACAGTGATTGCAGTGGTTGCATACCACTGAAAGAAGGGGGTGGGGGGAGGACGTAACATTAAGAATGGTTGAAATTTTGTGTTTTTCTGTTAAATTACAACTACCAAAAAGATCACACCAATCCAATTTTAGCAGCACTCTCCGAATTTTCACGAATAAGAAAACCATAATTTAAAGAAAAATTCTAACCTATTTCACGACAATTTAGCAATTCTATCACCGGGAATGTGTTCCACGGCCACCAAATTTTGGGATGTGTACAGTTCTGACTCTGGGGTGACACTGCGAACACATCAAGAAACCCGCAAAGGCATAAACACCTTGCAGAGCTAAGAATTCACATGCCGAGCCAAGTTGGGGGCAAAATATCCCACTCGTCCTGGTCATCTGGAAAGCCATCTGAATGATGAGCGAAGGGGACCTGTCACTCAGACTGGTAAAAATGAGAGGGACCAGCCCAGCAGATTGGCAGAGACACACAGCAGAGGTCCCTGGCTAATTTCAGGTCTCTTATCCGTGTACCAAAACGCTAGCTCGGTGTCCCGATGTCCACTGTGATTTGGGTATACAATGGGTATCTCTGTACATCCAGCACCTGGTAGGTGAGTGAGTTCAAACCATCAGAGAGCATTGTCTCCTTTGTGTGTGCAATTCGGTCAAACCTACAAGGAAAAGAGCACAAGGAGATTGTCTTAAAACAAAAATCTTAAGAAGAAATCATCACACGTACTTCCTCCTCCCTCTCCACTGTAACCTGACCACCTCAATTTCCCTCTAGGCCCAGAGCCTCGGACCTGCAGCCTACCTCATCCTAAAGGGGGAAGGAGTATGAATAAACAAAGAATGCACCTCTGAGGACTGGGTTCATTTTTCTTGTCTCTTGAGTGGCGGATCATGCGACACCTCCCGACCACAGCATTTGGGCGAGATATAGACATGCCTCTAAAAACTAATCTGCAAAGAGTAAAGGGAAAGTCATTATCACAGAGCTGCCATACACTTGGCCTGAGAGCCCCGGCTGCAAGACTGTTGCTCCATCCACCATCACCCTTGCTGTTCTCACTCAGCCCACAACCCAGCATCATGCCAGAACCCAGCCCAGCATGACCCTGGTTAAAACTCACATTCCGACTCCATGTCCTTTTACAACTGGTTCTGCGGTTTGTGGTGTTGACTACCATGTGCCAGACACTGGGGCCGTGTGCCCCACAGAATATACAGTGTGAATGCTTCAAACATAGGGCCTTTAGGGCCAGGATGGAGGTGAGAAGAGGAAGATGAGGTTGGAGACACAGAGGAAGAAGCATAGAGTTTGTAACCTCTGCTGGAGCAAGCCTAGGCAGAGCCCAGTTGAGGATGAACAGGTATCTGCCATAGCATTTTGGGCAGCCAGGATGGCACAGGCAAAGGCATGGAAGTGAGAGCAAGCCTAGTGCCCTCAGGGAGCAACGTAAGCTCCTGGGGACTGGTGACAAGGGTCTGGGGTAGGACGTGGCAGGTGATGGGCTGAAAAGGGCCAGGCTAAGTCACAGAGGCCTTCTCAGAGCATCCCACAAACGGTTGCCAGTATCTGAAAGGGGCCTAATATACAGTATTTCCAAAATGCTTTTAGCCATGGGGAAGTCTCTGGAAAGTAGTATACGAATGGAGGGCTTCAGAACATGTGGGAAAAGGCAGAAAAAAACAAATGGAGGGCTGAGAACAAGACTAGAGGCAGCCAGAACAGGGTGGAGGATTCTGTGTTGGTCCAAGGAAAAGGAATGAGGACCAAAATGAAAGCCTGGAGAGCAGGACAGCAAAGTTAGTTAAGAGGCAGAACTGGCTGATCCCAGACCACTTAAACATTCCTGGCCTTGCCTGGCACACAGTAAGTGGTGCATAGAAAGTGTTAGGTCCTTTATCTTTCAAGAAAGTTGCTCCACACACCACCCATCCTTCTAGTGCCACTGCGTTAGCATGGGACTAGATGCCTGCGGATGCTCCCTCCCTCCCCAGCTGTTCTGACCATTCAGACCTGTGGTATCCTGTCGGCCCTGCACACTGTCATATCAGTCCAGAGTGTCTGCCCAGGAGTGCCTCTGTGGAAGCAGGCTTGCTTCTGTCTGGACCCTATGTCCAGGTTTTCAGTGTCCTGGGCCTGCCTGGCACAGTGCTCTGTATGCAGCAGATGTTCAATGTGCACACACTTGATACCCCATCTACATACTAAAACTGGAGTTTCCTTCAAGGCTTATATTGAAGACGTGGGTCTCTGTTAAGTTTGCACACAATGGTAACTTGAATGACTTGGGTGTTGCTCTGACAGACACCTTCTGTTAACTGGTACTGCAATTTAGAAAGGCTGCACCAGGGTGTATTCTGATATTAAACTCAGTAATGAGCTCAGACTGGCTCCTGGAGGGAGAAGGTGCTCATCGGTGGCTGGTGGGGTTGAAGCCTCTACAGCCAGAGGACTGAGCAGAATGTTCTTTCAAATGCTACTGATAGATGTTTTTTACCACTGTAAATGACAACCCACATCATAATGATTTACCAGCTTAAAAAGAGCCCCAGGATGTGGATGGGACAGAACTGACCAGGCCATAATGGTTGCTGGGGCTGGATAGGTCCTCAAAGGTTTATTATACTACAGTATCTCTTTTGTATATGTGAAAATACTCCAAAATAAAAATATAACACAAAGCTTCTGTGAAGACAGTTAGGATTCTGCTCAAGGAAACTTGTTTCACAGTGAAAGGGGACCATAATGAAAGGAGGGATTTTTACAAAGGACATTGGTTTACTCCTTGAGTACAAAACGGCATGCAGCAAGTCAAAGTAAACTTGCCCCGTCACTTGGTTCCCATTTGACATTTTTCCAGGCCAATACAAAAATCTCAGAAACTCATTTTCCTACAGATCCCTTT
|
Task1_train_12724
|
Here is a mutation in KIF24 (kinesin family member 24) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Asphyxiating thoracic dystrophy 3
|
GTGCTGACTCTTCTGGCTTTTTTTTGGCCACATGTCCAGAGCGCACAGTTCCTTTCACAGGGCTAGCATGAATGACCCACTCTTGTGAAGGACTCCCTCTGGAGCCACCCCTTTTACCAGAGACCTTAGGTGCAGAAGTAAAAGGAATGTTGGGTGGGTGGCTGGTCAGAGGATGGACCTTCCCTCTCGTGGAACCAGGGGCTGCCACTGTGAGTGACTGCTGAAATCCCAGCTTGACTTTTTTGGGAGAACATTTGTCCTCTGACAAAGCCCCAGGGGAGCTCTGAATTCGTTTTGGAGAGGAGTTTCCAGATGTCCGATTTCGACTGGTAACTGAAGTGCAACACTTAATGCCTTTCTTTAGTTCTTTGACCCTGTAAATAATCATTTTATGTTAAATGTGTATTTTCACATGTTCTGCAATTCCTTTTCTATAGCTTTCTGGGAAAACAAAAACCAAAGAAAAGTATTACAAGGATTGGGAGTTATTTCTTTATCTGGGATAGAATAAGAGGAAAAGGGAACATTCTGTTTCAGCATGAGATATCCCTCTGTACCTGAATGAAAAAGAGCAGTGTTGGCTGGTTGTAGTGGCTCACATCTGTAATCTCAGCACTTTGGGAGGTTGAGGCAGGAGGACTGTTTGAGCCCAGGAATTCAAGACCAACCTGGGCAACAGAGCAAGACCTCATCTCTACTAGAAATAAAAAAATTAGCCAGACATGGTGATGCGTGTCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCGGGGAATATTGCTTGAGCCCTGGAGTTCAAGGCTGCAGTGAGCCATGATCACACTATTACACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTTAAAAAACAAACGAGAAAGAACAGTGTCTTCTCTGAGGATGTAAGCATGCACCCAACATTCCATGATCAGAAGAAGCCTTTTGGAAATCACCACAGCCCCATGTAAGGGACAGGCCAGAGACGCCAGTCTCAGAAGTGCACTGTGTTTATGCAGGGCCCACACTGCTTCCTGGAGAGAGGCCAACTCAGGAGTTCGTGTCCACCACTTACCTGCAATTCCACAGAGTCCTCTTTTTCTGCAAACCACCCCCTTTCAGGCTTCTCTAGGAAGATGAGTTCCCTCAAACCTGCTGGGACCTCAGGAAGCAAAACCTCCAGAAATACACAGGCTTGTGCTCATTCCATGAAAGGAAAAATGACTTGTCTATTCCCAGGGTTTCTCAACCTTAGCACTATTGACATTTTGTACCAGATAATTATTTCTTGAAGGATGTTTAGCAGCATCCTTGGCCTCTGCTCACTAGATGCCAGTAGCACTTCTTCCCAGTCATGGCAATCAAAAACATCTTACCTACTAGGAGAGCACATGTGACCACAGGGTGAGAGATGGAAGGGATCCCAGCAGATACCACAGTCACCCACAAAGAGGCCTGGCCAGGCAGTCAAGAGTTGCTGGCTCTGACACCAACTCCTAGTGAGCCTTTGGAAAGATCCTACCCTTCTCTGGACCTCAGTTTATCCTCTAACATGTTTGGGTTGGGCCCTTCTGGACACAGATAGCTCTAAGTGATTCTGCCTTGACAAGTAATATGTCTTCTATCTCTTACAATTTGGGCTGAGGCCAGCAGGAAGAAAACAACACTGAGCCTTCCACCCATTAATATTTCACTTCTCACTAGCCATTTAAAAGCCACTGACAGAATTAACTCCTGAACAAGGGAATGTGTCATTTTCCTCTTGTCATGCTTGCAAAGTGACAGGGCCTACCAGGTCACAGTCTTCAAATGACTAATTGCCAAGAACAAGGCTGTGGCGCTCAAGGTCAGATCCCTATGTGTGTGTGAGTGGGAGAGACATGTGCATGCACTTGCACACACACACGCGTGCACACATGCTCACACACGCGTGCTGCACAGACATGCACATGCACACTTACACACAACCTGCCATCTGGGAGCTGACTTACCGGTCAGCATAGCGCAAGGTGTTGAGAGTGTGTTCAGTGGCCACGTGGCTTGGTGAGATGTTGGCGATCATGCAGGTTTTGGCATTGCCGATGAAAGAGTCCTTCAGGACCTGTCCAAAACAGAAGGCAGGTCAATGAGTGAAGTCAATTAACAAAGTGCATACTGACTACTTACTAGGTGCAGGATGCTGGGCCATAGTTCCCTTCTGTCCACAAAAAGGTAATTAACATTAACAAAAGAAAAAATACAAATGGCCAATAAACACAGAAAAAGGTACTCACCACATCACTAATCCAAAAAATGCAAACAAACCATTAAAAAAACCAATATTTTTAACTCATTAGATTAAGAGACTAACGATGCCATTCCTTGGTGAGGGTCCAGGGAAATGAGTACTCTTCTACGCTAGCATGTACCATGAACTGGACAAGCTTTCCAGAGGGCAGTTTGGCAATATGTATCAAAATGTAAAAAGAAGCCAGGTACAGTGGCACTCACCTGTCTGTAGTCCCAGCTACTCAAAAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCAAGAACCTGTCTCAAAAACAGGAAAAAGTATGTTTTGGTTTGGCAATCACACTTCTAGGACTTTATCCTAAGGAGATAATTGCCCAATTGACCAAAAAAAGTATATATGATATTCATTACATTATTTATAATAGTAATATTTAGTAAAAATCTAGGTATCTATAAACAGGGAACAAACTAAATAATTATACACTGAATATAATAAAACCATTAAAAATGATTATACCTGTACTTAGGAACACAGAAAGATATCTAAAGCTTCTATCTTCGAGGGAAAAAGGTGTATGACTCCATAACTCCGTAAGCAGATCCATATGAGGCTATGCGGGCAGAGAGATGACTAGAAGGAAGTTCACTAACGTAGCAGTGTGTGGTTATCACTGAGGTCTGGGACTTTATCTTTTACTTTCTTCTTTATACTTGTATGTACAATTGGAATTCTTATGTTTTAATTAAAAAGAAACACATTTTCTGGAAATGGGGAACTTGTCTTAAAAAATAACAGAGCTGGCTGGGGACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTCGCTAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGTGAGGCATGGTGGCACACACCTGTAGTCCCAGATACTCCAGGGGCTTGTGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAATAAATAAATAAATAAGTAAAAAGCAACAGAGCCAATGCCAGAATCAGGACTAACCACCTATAAGTAGGTTCCTGGGTCCCTGGTTAAAATCATGTTTGAGAAGACCTAACCTACAGATCACCAACTGTGATGGGTAAGGAACTATGTTTTTACAGGTTCTGCCCAAGTACTATGGAGCCGCTACTCTAGCTGCACAGAATAAAACTCTGCCCATGTGCGGGGCTGGCTTCATCCTGCAGCATACAAAAAAATCTTCTCCTAGACATCTCTCTACCTTGTCTGTCTTCCACTGTGCACAGGACACAAGGCGAAAAAGAACCCAGGACACCCACAACTGTCTTCACAGCTGTTTATACCTAGGTACACCCTCCCATGCCACTCTTCCGCAGCCATTATGAATGCTGATTTAACATCTACTGGAGTTTTTTGTTAATAAAGAGGCACACTTTCATGACAGAAAAACAAAACAAAACAAAAACCCTATTTGTTCCACTAAGAATAATCATAGTTAACATTTATGTCATTTTTTTGTGTAGTGTTTTTTTCCATGTCGCACATTTTAAAAATGATAAAAACAGAAAGTGGTCATACAGTACATGATCTTTTAACATGAAAAGTTGCAGTTTCACCTTTACTCCCATTGTTACTTCCAAATAGATCCAATGCTGTTTCTTCTGCATCTTTTTAAACGTTTTTCCCTGTGTGGCTGCGTAATAGTAGAAATCAT
|
GTGCTGACTCTTCTGGCTTTTTTTTGGCCACATGTCCAGAGCGCACAGTTCCTTTCACAGGGCTAGCATGAATGACCCACTCTTGTGAAGGACTCCCTCTGGAGCCACCCCTTTTACCAGAGACCTTAGGTGCAGAAGTAAAAGGAATGTTGGGTGGGTGGCTGGTCAGAGGATGGACCTTCCCTCTCGTGGAACCAGGGGCTGCCACTGTGAGTGACTGCTGAAATCCCAGCTTGACTTTTTTGGGAGAACATTTGTCCTCTGACAAAGCCCCAGGGGAGCTCTGAATTCGTTTTGGAGAGGAGTTTCCAGATGTCCGATTTCGACTGGTAACTGAAGTGCAACACTTAATGCCTTTCTTTAGTTCTTTGACCCTGTAAATAATCATTTTATGTTAAATGTGTATTTTCACATGTTCTGCAATTCCTTTTCTATAGCTTTCTGGGAAAACAAAAACCAAAGAAAAGTATTACAAGGATTGGGAGTTATTTCTTTATCTGGGATAGAATAAGAGGAAAAGGGAACATTCTGTTTCAGCATGAGATATCCCTCTGTACCTGAATGAAAAAGAGCAGTGTTGGCTGGTTGTAGTGGCTCACATCTGTAATCTCAGCACTTTGGGAGGTTGAGGCAGGAGGACTGTTTGAGCCCAGGAATTCAAGACCAACCTGGGCAACAGAGCAAGACCTCATCTCTACTAGAAATAAAAAAATTAGCCAGACATGGTGATGCGTGTCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCGGGGAATATTGCTTGAGCCCTGGAGTTCAAGGCTGCAGTGAGCCATGATCACACTATTACACTCCAGCCTGGGTGACAGGGTGAGACTCTGTCTTTAAAAAACAAACGAGAAAGAACAGTGTCTTCTCTGAGGATGTAAGCATGCACCCAACATTCCATGATCAGAAGAAGCCTTTTGGAAATCACCACAGCCCCATGTAAGGGACAGGCCAGAGACGCCAGTCTCAGAAGTGCACTGTGTTTATGCAGGGCCCACACTGCTTCCTGGAGAGAGGCCAACTCAGGAGTTCGTGTCCACCACTTACCTGCAATTCCACAGAGTCCTCTTTTTCTGCAAACCACCCCCTTTCAGGCTTCTCTAGGAAGATGAGTTCCCTCAAACCTGCTGGGACCTCAGGAAGCAAAACCTCCAGAAATACACAGGCTTGTGCTCATTCCATGAAAGGAAAAATGACTTGTCTATTCCCAGGGTTTCTCAACCTTAGCACTATTGACATTTTGTACCAGATAATTATTTCTTGAAGGATGTTTAGCAGCATCCTTGGCCTCTGCTCACTAGATGCCAGTAGCACTTCTTCCCAGTCATGGCAATCAAAAACATCTTACCTACTAGGAGAGCACATGTGACCACAGGGTGAGAGATGGAAGGGATCCCAGCAGATACCACAGTCACCCACAAAGAGGCCTGGCCAGGCAGTCAAGAGTTGCTGGCTCTGACACCAACTCCTAGTGAGCCTTTGGAAAGATCCTACCCTTCTCTGGACCTCAGTTTATCCTCTAACATGTTTGGGTTGGGCCCTTCTGGACACAGATAGCTCTAAGTGATTCTGCCTTGACAAGTAATATGTCTTCTATCTCTTACAATTTGGGCTGAGGCCAGCAGGAAGAAAACAACACTGAGCCTTCCACCCATTAATATTTCACTTCTCACTAGCCATTTAAAAGCCACTGACAGAATTAACTCCTGAACAAGGGAATGTGTCATTTTCCTCTTGTCATGCTTGCAAAGTGACAGGGCCTACCAGGTCACAGTCTTCAAATGACTAATTGCCAAGAACAAGGCTGTGGCGCTCAAGGTCAGATCCCTATGTGTGTGTGAGTGGGAGAGACATGTGCATGCACTTGCACACACACACGCGTGCACACATGCTCACACACGCGTGCTGCACAGACATGCACATGCACACTTACACACAACCTGCCATCTGGGAGCTGACTTACCGGTCAGCATAGCGCAAGGTGTTGAGAGTGTGTTCAGTGGCCACGTGGCTTGGTGAGATGCTGGCGATCATGCAGGTTTTGGCATTGCCGATGAAAGAGTCCTTCAGGACCTGTCCAAAACAGAAGGCAGGTCAATGAGTGAAGTCAATTAACAAAGTGCATACTGACTACTTACTAGGTGCAGGATGCTGGGCCATAGTTCCCTTCTGTCCACAAAAAGGTAATTAACATTAACAAAAGAAAAAATACAAATGGCCAATAAACACAGAAAAAGGTACTCACCACATCACTAATCCAAAAAATGCAAACAAACCATTAAAAAAACCAATATTTTTAACTCATTAGATTAAGAGACTAACGATGCCATTCCTTGGTGAGGGTCCAGGGAAATGAGTACTCTTCTACGCTAGCATGTACCATGAACTGGACAAGCTTTCCAGAGGGCAGTTTGGCAATATGTATCAAAATGTAAAAAGAAGCCAGGTACAGTGGCACTCACCTGTCTGTAGTCCCAGCTACTCAAAAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATAGCAAGAACCTGTCTCAAAAACAGGAAAAAGTATGTTTTGGTTTGGCAATCACACTTCTAGGACTTTATCCTAAGGAGATAATTGCCCAATTGACCAAAAAAAGTATATATGATATTCATTACATTATTTATAATAGTAATATTTAGTAAAAATCTAGGTATCTATAAACAGGGAACAAACTAAATAATTATACACTGAATATAATAAAACCATTAAAAATGATTATACCTGTACTTAGGAACACAGAAAGATATCTAAAGCTTCTATCTTCGAGGGAAAAAGGTGTATGACTCCATAACTCCGTAAGCAGATCCATATGAGGCTATGCGGGCAGAGAGATGACTAGAAGGAAGTTCACTAACGTAGCAGTGTGTGGTTATCACTGAGGTCTGGGACTTTATCTTTTACTTTCTTCTTTATACTTGTATGTACAATTGGAATTCTTATGTTTTAATTAAAAAGAAACACATTTTCTGGAAATGGGGAACTTGTCTTAAAAAATAACAGAGCTGGCTGGGGACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTCGCTAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGTGAGGCATGGTGGCACACACCTGTAGTCCCAGATACTCCAGGGGCTTGTGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGTGAGACTCCCTCTCAAAAATAAATAAATAAATAAGTAAAAAGCAACAGAGCCAATGCCAGAATCAGGACTAACCACCTATAAGTAGGTTCCTGGGTCCCTGGTTAAAATCATGTTTGAGAAGACCTAACCTACAGATCACCAACTGTGATGGGTAAGGAACTATGTTTTTACAGGTTCTGCCCAAGTACTATGGAGCCGCTACTCTAGCTGCACAGAATAAAACTCTGCCCATGTGCGGGGCTGGCTTCATCCTGCAGCATACAAAAAAATCTTCTCCTAGACATCTCTCTACCTTGTCTGTCTTCCACTGTGCACAGGACACAAGGCGAAAAAGAACCCAGGACACCCACAACTGTCTTCACAGCTGTTTATACCTAGGTACACCCTCCCATGCCACTCTTCCGCAGCCATTATGAATGCTGATTTAACATCTACTGGAGTTTTTTGTTAATAAAGAGGCACACTTTCATGACAGAAAAACAAAACAAAACAAAAACCCTATTTGTTCCACTAAGAATAATCATAGTTAACATTTATGTCATTTTTTTGTGTAGTGTTTTTTTCCATGTCGCACATTTTAAAAATGATAAAAACAGAAAGTGGTCATACAGTACATGATCTTTTAACATGAAAAGTTGCAGTTTCACCTTTACTCCCATTGTTACTTCCAAATAGATCCAATGCTGTTTCTTCTGCATCTTTTTAAACGTTTTTCCCTGTGTGGCTGCGTAATAGTAGAAATCAT
|
Task1_train_12725
|
This alteration in DNAI1 (dynein axonemal intermediate chain 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Primary ciliary dyskinesia
|
GTGTCAGAGATATATGGGGGAGGCCAGAGAGGTTGTGTTAGATCTCAAATGCCAGGCTGAGGCAGAAGGAGTTTGTTCTGTTGGCAGTGGTGAGCCATGGAAGGTTTTGGAGCCAAGGAGAGGACTGTCTGTTCTAAGAAGATTGGGCTCCTGTCCCACAGCACAGGCTTCTTCTCCAGGGAACCTGCCTGAGTAGCCAGCTCTGTGCAGGCCCTACTGTGAAGCTTCAACCAGCAACACTCTGTGGGGTGTGTGTGTGTGTGCGTGCTGGTGCAATTCTGGGGAAGGAGGCAGGAAGGATGTACGAGCAAGAGACTAGGGTCAAGCAGGTCTGCCCTAAGAAAATAAGGCAGAAGAGAATAAATCAGTGAAGCAGGTTCCAGCTCCTCCCTACCACCTGGTCCCTGGGAATTCATTCATTCTCTTAACCTCACTTACCACCCTCCCTCTTTTGCTTTATTCCTACCGGCTCACCTCCACCCCAGGAGCATGTGTGTGACTTGCGCACATACACACATACACAGTCACTTGCAAATACACACACACCACCCCCCACTGGGCATCAGGCTGCTAAGTGGGGTGTGAAATACAATTTCCATGCGGTGCTGGCGTCTGCTCATTAAACACTTCCCTTTGCAGCTCCCTAGCGCCTCTTACAGCCTGGCCTTTGACACCCCCTGTCCCCTCCCCCCTTTAAAGGGACCACCTTTACACAGAAGGAGAAGCGGTCTCAATATTAGGGCTGACTCTGACTTATGCCTCACAGGCTCTGTGGCGCTCTCAGTCCAGTGAAAGTGCAAAAGAGCCAGCTGCCTGGACAGACCAAGACAGGACTCAGCCCGCCCTCCTGAAGCTCCGATCCACCAGGCCTCAGGCTGGCTGGGGAGAGGCAACCCATTCTCTACTTCCCTCCAGCCCCCAACAACCCTGGTGACAGCAGCAGTTACAGGCAACAGGCAATGGCACTGGGTTCTTGGCCTCCCTCACTGGTCCTCTGCTAGTGACGGGGAGGGGACAGGACGGTGGTCCCAGCATGGGCGGTCTGGAGGGAGCTAGAGAATGGAAAACTCTGGGCACCCAGCCCCACCCCAGCTCTCTGGGACATGGCTTGGCCAGGCCTCCACATCTGGCAACAGAAACTTGAGTCTCAAGCGTGTCATCTTCATAAGACAACAGCTCTGTCTCCAAAACACTTTCCCATATGTTTGCTTCCAGCCCTGAGAAGATGGGTGGGGCAGGATAATTAACCCTGATTTGCAGTTGGAGAAATGCAACTCAAATCTGGGACTGGGAGCAAAGTTCTGGGAGCAGGAGTTAGTAGCAAAGGAAAGGTGGGAAAGAGGAGACACTTCCTAGAGAAAGGCCAAGCCTGGAAGAGGTGGGCAGGAGACGGGGGCCTGCTCCTCTTCACCCCCCACTAGCAAGCAGGGAAAGGCCCCTGCAGAACCTTGGCACCCAGATTCCGAGGATGATGGTAACAATGAGGACATTAGCTAACATGTATCGAATACTTCATATGTGCAATGTTCTGACGTAAGGGCTTCACATATAGTATCTCATTTATTTCTCATAACAAACCTATGCTATTATGACTCCTGTTTTATAAACAGGAAACTGGTTGATGGGCCCTGTTCTTTCCAGGCCATGTTTATTTATGCAAGGTGGTTGAAGCCGTAGCCACTGCCTTCTCCCCACAGTGGAGCTCCTGGAACCCAACCCAGGGAGGGATTGGGTACCTCCACTGCCAAGCCAGTAAATTAAGGCAATGCTTTGACTGGCACTATTGCTCCAGGATGGTCAAGAAAGGAATGAGAAATCCCCAAGAAAGGAATGAGAGACAGAGATGGATGGAAGGAGGGAGAAAGGACCAATCATGGGATTCTGGGAAATGGGCTCCCAGAAGTTGCTTCTGAGCCTCAGATGGGTGCTTGGGGGAGCCCTGCTCTGCCCACAGCCCTAACTCAACACTTTAGCAGGGTCCCAGAGCTCACATTTTGGGATGTTTCAGGTCAAGTGGCAGAAGGATGACATGGACCAAAACCTTAACTTCTTCTCTGTGTCATCTGACGGCAGGATTGTGTCTTGGACTCTCGTGAAGGTGCCTATTTCCCAGAGAGGGTCACACTGGGGTGATTGGGGAGGCAGGGAGCTAAATGGCAAAGGGCAACCCCCAGCCTTGCTCATCTAGCCCAACCCACGTGCCCTCCCCCCCACATCCCTCTGTCTGTGGCTACAGAGAAAGCTGGTTCACATAGATGTCATCAAGCTGAAGGTGGAAGGCAGCACCACGGAAGTTCCTGAGGGGTTGCAGCTGCACCCAGTGGGTAGGAGCCCCAGCCCTCTCACCTCCAGGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAAC
|
GTGTCAGAGATATATGGGGGAGGCCAGAGAGGTTGTGTTAGATCTCAAATGCCAGGCTGAGGCAGAAGGAGTTTGTTCTGTTGGCAGTGGTGAGCCATGGAAGGTTTTGGAGCCAAGGAGAGGACTGTCTGTTCTAAGAAGATTGGGCTCCTGTCCCACAGCACAGGCTTCTTCTCCAGGGAACCTGCCTGAGTAGCCAGCTCTGTGCAGGCCCTACTGTGAAGCTTCAACCAGCAACACTCTGTGGGGTGTGTGTGTGTGTGCGTGCTGGTGCAATTCTGGGGAAGGAGGCAGGAAGGATGTACGAGCAAGAGACTAGGGTCAAGCAGGTCTGCCCTAAGAAAATAAGGCAGAAGAGAATAAATCAGTGAAGCAGGTTCCAGCTCCTCCCTACCACCTGGTCCCTGGGAATTCATTCATTCTCTTAACCTCACTTACCACCCTCCCTCTTTTGCTTTATTCCTACCGGCTCACCTCCACCCCAGGAGCATGTGTGTGACTTGCGCACATACACACATACACAGTCACTTGCAAATACACACACACCACCCCCCACTGGGCATCAGGCTGCTAAGTGGGGTGTGAAATACAATTTCCATGCGGTGCTGGCGTCTGCTCATTAAACACTTCCCTTTGCAGCTCCCTAGCGCCTCTTACAGCCTGGCCTTTGACACCCCCTGTCCCCTCCCCCCTTTAAAGGGACCACCTTTACACAGAAGGAGAAGCGGTCTCAATATTAGGGCTGACTCTGACTTATGCCTCACAGGCTCTGTGGCGCTCTCAGTCCAGTGAAAGTGCAAAAGAGCCAGCTGCCTGGACAGACCAAGACAGGACTCAGCCCGCCCTCCTGAAGCTCCGATCCACCAGGCCTCAGGCTGGCTGGGGAGAGGCAACCCATTCTCTACTTCCCTCCAGCCCCCAACAACCCTGGTGACAGCAGCAGTTACAGGCAACAGGCAATGGCACTGGGTTCTTGGCCTCCCTCACTGGTCCTCTGCTAGTGACGGGGAGGGGACAGGACGGTGGTCCCAGCATGGGCGGTCTGGAGGGAGCTAGAGAATGGAAAACTCTGGGCACCCAGCCCCACCCCAGCTCTCTGGGACATGGCTTGGCCAGGCCTCCACATCTGGCAACAGAAACTTGAGTCTCAAGCGTGTCATCTTCATAAGACAACAGCTCTGTCTCCAAAACACTTTCCCATATGTTTGCTTCCAGCCCTGAGAAGATGGGTGGGGCAGGATAATTAACCCTGATTTGCAGTTGGAGAAATGCAACTCAAATCTGGGACTGGGAGCAAAGTTCTGGGAGCAGGAGTTAGTAGCAAAGGAAAGGTGGGAAAGAGGAGACACTTCCTAGAGAAAGGCCAAGCCTGGAAGAGGTGGGCAGGAGACGGGGGCCTGCTCCTCTTCACCCCCCACTAGCAAGCAGGGAAAGGCCCCTGCAGAACCTTGGCACCCAGATTCCGAGGATGATGGTAACAATGAGGACATTAGCTAACATGTATCGAATACTTCATATGTGCAATGTTCTGACGTAAGGGCTTCACATATAGTATCTCATTTATTTCTCATAACAAACCTATGCTATTATGACTCCTGTTTTATAAACAGGAAACTGGTTGATGGGCCCTGTTCTTTCCAGGCCATGTTTATTTATGCAAGGTGGTTGAAGCCGTAGCCACTGCCTTCTCCCCACAGTGGAGCTCCTGGAACCCAACCCAGGGAGGGATTGGGTACCTCCACTGCCAAGCCAGTAAATTAAGGCAATGCTTTGACTGGCACTATTGCTCCAGGATGGTCAAGAAAGGAATGAGAAATCCCCAAGAAAGGAATGAGAGACAGAGATGGATGGAAGGAGGGAGAAAGGACCAATCATGGGATTCTGGGAAATGGGCTCCCAGAAGTTGCTTCTGAGCCTCAGATGGGTGCTTGGGGGAGCCCTGCTCTGCCCACAGCCCTAACTCAACACTTTAGCAGGGTCCCAGAGCTCACATTTTGGGATGTTTCAGGTCAAGTGGCAGAAGGATGACATGGACCAAAACCTTAACTACTTCTCTGTGTCATCTGACGGCAGGATTGTGTCTTGGACTCTCGTGAAGGTGCCTATTTCCCAGAGAGGGTCACACTGGGGTGATTGGGGAGGCAGGGAGCTAAATGGCAAAGGGCAACCCCCAGCCTTGCTCATCTAGCCCAACCCACGTGCCCTCCCCCCCACATCCCTCTGTCTGTGGCTACAGAGAAAGCTGGTTCACATAGATGTCATCAAGCTGAAGGTGGAAGGCAGCACCACGGAAGTTCCTGAGGGGTTGCAGCTGCACCCAGTGGGTAGGAGCCCCAGCCCTCTCACCTCCAGGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAAC
|
Task1_train_12726
|
Chromosome 9 houses a mutation in gene DNAI1 (dynein axonemal intermediate chain 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Kartagener syndrome
|
GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAACCCCCAGATCCTCAAGCCCTTCCTTTCCCCCAGGGTGTGCTGAGGGTGGGAAGGGCAGCCAGGAGCTTGGCCCCAGTTCAGCTGGGATGCGATGTGGGTTAAGGACAGGAGTCTAAGGCTCTGATCCTCCAGACCCCCAGGGAAGTGGTGGCTGCTGACCTTTCTCTCACTTCTGACCCCCGTTCCCTCCCCGACCAGTGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTGCAGCTCCGACTGGACAGTGAAGATCTGGGACCACACCATCAAGTGAGGGGCCTGTTCCTGGCTCTGCCTGGGGCCCTCCCCTGGGCTATGGCACTGTGAGCCCTCTGTGCCATGGGCTTTCCACCCTCCACCTCTGCAGGACCCCGATGTTCATCTATGACCTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCAGTCACCACAGATGGGAAGGTGAGTGCCAGCGTCCTGACTTCACTGAGTCCCTACTGGAGATCAGGTGTGTTATCTCAGGGGCTTCCTGATGGAGAACCCATCCCATGCCTAGGTCAGGAAGGAGAAGGCGGGACATAAGGACTGTGTATTTTCCAGGGGCAAGCCATCCAGGGTCCAGCCAAAAGAGGAATCATTCATCCCATGAGGCTTCAGGGAGGAAACAGAGCTGTTCACCTTGGAGGAGAAAGCACTCTGGGGGATGAGATGCCATGGAGCAGTTATTTCCTCTGCTGTATGGTGGAGAGCTAGAGGGTGGCAGGGCCCGGCTCCATCTAAGGAAAAATGTATGAGCCAGAGTTGATCAGTGACTGAATAGTGTCTATAATGTAGTGAAGTCTCCATCCCCGGGAGTGTGCAAGCTGATTCTGAGGGAACTTCAGTGGGGTGGAATGGGAGGGGGCTATTCAACACTGAGAATTGGTGAGAGCTCAGAAACAAACATCTTGTGAGCATATTCTTGAATGCAAACCCATTTTCCCTATGGACTTTGATATAAACTGAGAAGCACTGGCTGCCCCAAGGAAAGAATGCAGCGATGAAGGCACCATTCTAAAGTCCGTCAGTCATCTCTTCCTGGAACAGATAACTACTAAGGGCCAACGATGGTGCCCAGCTCTAGGCTGGACCCTGGTGGCTTAGATACCTGCTCTTGTGGAGCTTATGTTCTAGTGAAGGGAAAGATACAAAAAGCAACAACAAAATTCCCAGTGTTCTAGGCAGAGAATTATTAATAAAAGACTGTGATATGTAAACATAAATGTTCATGGCAGCATTACTCATAACAGTCAGAGTGGCAACAACCCAGTGTCCATCAACTGCTGAATAGATAAACAAAATATAGTCTCTCCTTGGGGATTATGTCAGCAAGGACAAGGAATGATGTGCTGATACATGCTACAACATGGAGGAACCTTGACAACATGCTTAGCGTAAAAAGCCAGTCACAAAAGACCACATACTGTATAATTCCACTTCTATAATACATCCAAAACAGGCAAATTTGTAGAGATGGAAAGTCAATTTGTGTGGCCTAGGGTGGTGAAAATGTTCTAAAATCGGTTGTAGAGAAGGTTGCATAACTGTGAATATACTAACACCAAGAATTTGATGCTTTAAATGAGTGAATTTTATAGTATATGAATTATATCTCAATAAAGTTGTTACATTAAAAGAAGAAAGATAGGTTCACAAAGGCCAGGCAATGAAAAAGAAAAAAAGAAAAAGAAAAAATAAAAGGACTGGGTGGTCTGTTGGATACAGTGGTCAGGAAAGGCTTCTTTGAAGAGGTGACACGCACGCTGAGAGTTGACTGGCAAGAAGGAGGCAGCCATGTGGAGATAGGGCAGGGGAGCAGCCCATGGTGAGGGAGCAGCTGGGGCAGATGCCCTGAGGTGGGAACCAGCTTGGGGTTTAAGGAACAGGAAGGCAAGTGTGGTTGGGGTAGAGTAAGCAAGGGGCGAGAACATGAGGTGAGAGTGGGGAGGTGGGCTAGAGTGTGGGATCTGGATTTTATTTATAGTGCCAAGGGAGACTGTGGGAGGATTTTAAGTGCTTTAAAGGTAAGCCTACTGCCATATGGAGGATGGATTGTAACAAGGCAAGAGTGGAAGCGGGGAGACCAGTTAAGAGGCTGCCACAGTTGTCCAGGTGAGAGTTGGTAGTGGTTTGGTCTGAGGGTGTGGTGAAGGTAGCATCCAACATGGAATGAGCACTGGTATGTCAAGCACTGTCCTTGCACTTTACATATATTAACTGGTGTAAGCCCT
|
GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAACCCCCAGATCCTCAAGCCCTTCCTTTCCCCCAGGGTGTGCTGAGGGTGGGAAGGGCAGCCAGGAGCTTGGCCCCAGTTCAGCTGGGATGCGATGTGGGTTAAGGACAGGAGTCTAAGGCTCTGATCCTCCAGACCCCCAGGGAAGTGGTGGCTGCTGACCTTTCTCTCACTTCTGACCCCCGTTCCCTCCCCGACCAGTGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTACAGCTCCGACTGGACAGTGAAGATCTGGGACCACACCATCAAGTGAGGGGCCTGTTCCTGGCTCTGCCTGGGGCCCTCCCCTGGGCTATGGCACTGTGAGCCCTCTGTGCCATGGGCTTTCCACCCTCCACCTCTGCAGGACCCCGATGTTCATCTATGACCTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCAGTCACCACAGATGGGAAGGTGAGTGCCAGCGTCCTGACTTCACTGAGTCCCTACTGGAGATCAGGTGTGTTATCTCAGGGGCTTCCTGATGGAGAACCCATCCCATGCCTAGGTCAGGAAGGAGAAGGCGGGACATAAGGACTGTGTATTTTCCAGGGGCAAGCCATCCAGGGTCCAGCCAAAAGAGGAATCATTCATCCCATGAGGCTTCAGGGAGGAAACAGAGCTGTTCACCTTGGAGGAGAAAGCACTCTGGGGGATGAGATGCCATGGAGCAGTTATTTCCTCTGCTGTATGGTGGAGAGCTAGAGGGTGGCAGGGCCCGGCTCCATCTAAGGAAAAATGTATGAGCCAGAGTTGATCAGTGACTGAATAGTGTCTATAATGTAGTGAAGTCTCCATCCCCGGGAGTGTGCAAGCTGATTCTGAGGGAACTTCAGTGGGGTGGAATGGGAGGGGGCTATTCAACACTGAGAATTGGTGAGAGCTCAGAAACAAACATCTTGTGAGCATATTCTTGAATGCAAACCCATTTTCCCTATGGACTTTGATATAAACTGAGAAGCACTGGCTGCCCCAAGGAAAGAATGCAGCGATGAAGGCACCATTCTAAAGTCCGTCAGTCATCTCTTCCTGGAACAGATAACTACTAAGGGCCAACGATGGTGCCCAGCTCTAGGCTGGACCCTGGTGGCTTAGATACCTGCTCTTGTGGAGCTTATGTTCTAGTGAAGGGAAAGATACAAAAAGCAACAACAAAATTCCCAGTGTTCTAGGCAGAGAATTATTAATAAAAGACTGTGATATGTAAACATAAATGTTCATGGCAGCATTACTCATAACAGTCAGAGTGGCAACAACCCAGTGTCCATCAACTGCTGAATAGATAAACAAAATATAGTCTCTCCTTGGGGATTATGTCAGCAAGGACAAGGAATGATGTGCTGATACATGCTACAACATGGAGGAACCTTGACAACATGCTTAGCGTAAAAAGCCAGTCACAAAAGACCACATACTGTATAATTCCACTTCTATAATACATCCAAAACAGGCAAATTTGTAGAGATGGAAAGTCAATTTGTGTGGCCTAGGGTGGTGAAAATGTTCTAAAATCGGTTGTAGAGAAGGTTGCATAACTGTGAATATACTAACACCAAGAATTTGATGCTTTAAATGAGTGAATTTTATAGTATATGAATTATATCTCAATAAAGTTGTTACATTAAAAGAAGAAAGATAGGTTCACAAAGGCCAGGCAATGAAAAAGAAAAAAAGAAAAAGAAAAAATAAAAGGACTGGGTGGTCTGTTGGATACAGTGGTCAGGAAAGGCTTCTTTGAAGAGGTGACACGCACGCTGAGAGTTGACTGGCAAGAAGGAGGCAGCCATGTGGAGATAGGGCAGGGGAGCAGCCCATGGTGAGGGAGCAGCTGGGGCAGATGCCCTGAGGTGGGAACCAGCTTGGGGTTTAAGGAACAGGAAGGCAAGTGTGGTTGGGGTAGAGTAAGCAAGGGGCGAGAACATGAGGTGAGAGTGGGGAGGTGGGCTAGAGTGTGGGATCTGGATTTTATTTATAGTGCCAAGGGAGACTGTGGGAGGATTTTAAGTGCTTTAAAGGTAAGCCTACTGCCATATGGAGGATGGATTGTAACAAGGCAAGAGTGGAAGCGGGGAGACCAGTTAAGAGGCTGCCACAGTTGTCCAGGTGAGAGTTGGTAGTGGTTTGGTCTGAGGGTGTGGTGAAGGTAGCATCCAACATGGAATGAGCACTGGTATGTCAAGCACTGTCCTTGCACTTTACATATATTAACTGGTGTAAGCCCT
|
Task1_train_12727
|
Gene DNAI1 (dynein axonemal intermediate chain 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Primary ciliary dyskinesia
|
GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAACCCCCAGATCCTCAAGCCCTTCCTTTCCCCCAGGGTGTGCTGAGGGTGGGAAGGGCAGCCAGGAGCTTGGCCCCAGTTCAGCTGGGATGCGATGTGGGTTAAGGACAGGAGTCTAAGGCTCTGATCCTCCAGACCCCCAGGGAAGTGGTGGCTGCTGACCTTTCTCTCACTTCTGACCCCCGTTCCCTCCCCGACCAGTGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTGCAGCTCCGACTGGACAGTGAAGATCTGGGACCACACCATCAAGTGAGGGGCCTGTTCCTGGCTCTGCCTGGGGCCCTCCCCTGGGCTATGGCACTGTGAGCCCTCTGTGCCATGGGCTTTCCACCCTCCACCTCTGCAGGACCCCGATGTTCATCTATGACCTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCAGTCACCACAGATGGGAAGGTGAGTGCCAGCGTCCTGACTTCACTGAGTCCCTACTGGAGATCAGGTGTGTTATCTCAGGGGCTTCCTGATGGAGAACCCATCCCATGCCTAGGTCAGGAAGGAGAAGGCGGGACATAAGGACTGTGTATTTTCCAGGGGCAAGCCATCCAGGGTCCAGCCAAAAGAGGAATCATTCATCCCATGAGGCTTCAGGGAGGAAACAGAGCTGTTCACCTTGGAGGAGAAAGCACTCTGGGGGATGAGATGCCATGGAGCAGTTATTTCCTCTGCTGTATGGTGGAGAGCTAGAGGGTGGCAGGGCCCGGCTCCATCTAAGGAAAAATGTATGAGCCAGAGTTGATCAGTGACTGAATAGTGTCTATAATGTAGTGAAGTCTCCATCCCCGGGAGTGTGCAAGCTGATTCTGAGGGAACTTCAGTGGGGTGGAATGGGAGGGGGCTATTCAACACTGAGAATTGGTGAGAGCTCAGAAACAAACATCTTGTGAGCATATTCTTGAATGCAAACCCATTTTCCCTATGGACTTTGATATAAACTGAGAAGCACTGGCTGCCCCAAGGAAAGAATGCAGCGATGAAGGCACCATTCTAAAGTCCGTCAGTCATCTCTTCCTGGAACAGATAACTACTAAGGGCCAACGATGGTGCCCAGCTCTAGGCTGGACCCTGGTGGCTTAGATACCTGCTCTTGTGGAGCTTATGTTCTAGTGAAGGGAAAGATACAAAAAGCAACAACAAAATTCCCAGTGTTCTAGGCAGAGAATTATTAATAAAAGACTGTGATATGTAAACATAAATGTTCATGGCAGCATTACTCATAACAGTCAGAGTGGCAACAACCCAGTGTCCATCAACTGCTGAATAGATAAACAAAATATAGTCTCTCCTTGGGGATTATGTCAGCAAGGACAAGGAATGATGTGCTGATACATGCTACAACATGGAGGAACCTTGACAACATGCTTAGCGTAAAAAGCCAGTCACAAAAGACCACATACTGTATAATTCCACTTCTATAATACATCCAAAACAGGCAAATTTGTAGAGATGGAAAGTCAATTTGTGTGGCCTAGGGTGGTGAAAATGTTCTAAAATCGGTTGTAGAGAAGGTTGCATAACTGTGAATATACTAACACCAAGAATTTGATGCTTTAAATGAGTGAATTTTATAGTATATGAATTATATCTCAATAAAGTTGTTACATTAAAAGAAGAAAGATAGGTTCACAAAGGCCAGGCAATGAAAAAGAAAAAAAGAAAAAGAAAAAATAAAAGGACTGGGTGGTCTGTTGGATACAGTGGTCAGGAAAGGCTTCTTTGAAGAGGTGACACGCACGCTGAGAGTTGACTGGCAAGAAGGAGGCAGCCATGTGGAGATAGGGCAGGGGAGCAGCCCATGGTGAGGGAGCAGCTGGGGCAGATGCCCTGAGGTGGGAACCAGCTTGGGGTTTAAGGAACAGGAAGGCAAGTGTGGTTGGGGTAGAGTAAGCAAGGGGCGAGAACATGAGGTGAGAGTGGGGAGGTGGGCTAGAGTGTGGGATCTGGATTTTATTTATAGTGCCAAGGGAGACTGTGGGAGGATTTTAAGTGCTTTAAAGGTAAGCCTACTGCCATATGGAGGATGGATTGTAACAAGGCAAGAGTGGAAGCGGGGAGACCAGTTAAGAGGCTGCCACAGTTGTCCAGGTGAGAGTTGGTAGTGGTTTGGTCTGAGGGTGTGGTGAAGGTAGCATCCAACATGGAATGAGCACTGGTATGTCAAGCACTGTCCTTGCACTTTACATATATTAACTGGTGTAAGCCCT
|
GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAACCCCCAGATCCTCAAGCCCTTCCTTTCCCCCAGGGTGTGCTGAGGGTGGGAAGGGCAGCCAGGAGCTTGGCCCCAGTTCAGCTGGGATGCGATGTGGGTTAAGGACAGGAGTCTAAGGCTCTGATCCTCCAGACCCCCAGGGAAGTGGTGGCTGCTGACCTTTCTCTCACTTCTGACCCCCGTTCCCTCCCCGACCAGTGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTACAGCTCCGACTGGACAGTGAAGATCTGGGACCACACCATCAAGTGAGGGGCCTGTTCCTGGCTCTGCCTGGGGCCCTCCCCTGGGCTATGGCACTGTGAGCCCTCTGTGCCATGGGCTTTCCACCCTCCACCTCTGCAGGACCCCGATGTTCATCTATGACCTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCAGTCACCACAGATGGGAAGGTGAGTGCCAGCGTCCTGACTTCACTGAGTCCCTACTGGAGATCAGGTGTGTTATCTCAGGGGCTTCCTGATGGAGAACCCATCCCATGCCTAGGTCAGGAAGGAGAAGGCGGGACATAAGGACTGTGTATTTTCCAGGGGCAAGCCATCCAGGGTCCAGCCAAAAGAGGAATCATTCATCCCATGAGGCTTCAGGGAGGAAACAGAGCTGTTCACCTTGGAGGAGAAAGCACTCTGGGGGATGAGATGCCATGGAGCAGTTATTTCCTCTGCTGTATGGTGGAGAGCTAGAGGGTGGCAGGGCCCGGCTCCATCTAAGGAAAAATGTATGAGCCAGAGTTGATCAGTGACTGAATAGTGTCTATAATGTAGTGAAGTCTCCATCCCCGGGAGTGTGCAAGCTGATTCTGAGGGAACTTCAGTGGGGTGGAATGGGAGGGGGCTATTCAACACTGAGAATTGGTGAGAGCTCAGAAACAAACATCTTGTGAGCATATTCTTGAATGCAAACCCATTTTCCCTATGGACTTTGATATAAACTGAGAAGCACTGGCTGCCCCAAGGAAAGAATGCAGCGATGAAGGCACCATTCTAAAGTCCGTCAGTCATCTCTTCCTGGAACAGATAACTACTAAGGGCCAACGATGGTGCCCAGCTCTAGGCTGGACCCTGGTGGCTTAGATACCTGCTCTTGTGGAGCTTATGTTCTAGTGAAGGGAAAGATACAAAAAGCAACAACAAAATTCCCAGTGTTCTAGGCAGAGAATTATTAATAAAAGACTGTGATATGTAAACATAAATGTTCATGGCAGCATTACTCATAACAGTCAGAGTGGCAACAACCCAGTGTCCATCAACTGCTGAATAGATAAACAAAATATAGTCTCTCCTTGGGGATTATGTCAGCAAGGACAAGGAATGATGTGCTGATACATGCTACAACATGGAGGAACCTTGACAACATGCTTAGCGTAAAAAGCCAGTCACAAAAGACCACATACTGTATAATTCCACTTCTATAATACATCCAAAACAGGCAAATTTGTAGAGATGGAAAGTCAATTTGTGTGGCCTAGGGTGGTGAAAATGTTCTAAAATCGGTTGTAGAGAAGGTTGCATAACTGTGAATATACTAACACCAAGAATTTGATGCTTTAAATGAGTGAATTTTATAGTATATGAATTATATCTCAATAAAGTTGTTACATTAAAAGAAGAAAGATAGGTTCACAAAGGCCAGGCAATGAAAAAGAAAAAAAGAAAAAGAAAAAATAAAAGGACTGGGTGGTCTGTTGGATACAGTGGTCAGGAAAGGCTTCTTTGAAGAGGTGACACGCACGCTGAGAGTTGACTGGCAAGAAGGAGGCAGCCATGTGGAGATAGGGCAGGGGAGCAGCCCATGGTGAGGGAGCAGCTGGGGCAGATGCCCTGAGGTGGGAACCAGCTTGGGGTTTAAGGAACAGGAAGGCAAGTGTGGTTGGGGTAGAGTAAGCAAGGGGCGAGAACATGAGGTGAGAGTGGGGAGGTGGGCTAGAGTGTGGGATCTGGATTTTATTTATAGTGCCAAGGGAGACTGTGGGAGGATTTTAAGTGCTTTAAAGGTAAGCCTACTGCCATATGGAGGATGGATTGTAACAAGGCAAGAGTGGAAGCGGGGAGACCAGTTAAGAGGCTGCCACAGTTGTCCAGGTGAGAGTTGGTAGTGGTTTGGTCTGAGGGTGTGGTGAAGGTAGCATCCAACATGGAATGAGCACTGGTATGTCAAGCACTGTCCTTGCACTTTACATATATTAACTGGTGTAAGCCCT
|
Task1_train_12728
|
This genomic variant is located on Chromosome 9, within the DNAI1 (dynein axonemal intermediate chain 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; DNAI1-related disorder
|
GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAACCCCCAGATCCTCAAGCCCTTCCTTTCCCCCAGGGTGTGCTGAGGGTGGGAAGGGCAGCCAGGAGCTTGGCCCCAGTTCAGCTGGGATGCGATGTGGGTTAAGGACAGGAGTCTAAGGCTCTGATCCTCCAGACCCCCAGGGAAGTGGTGGCTGCTGACCTTTCTCTCACTTCTGACCCCCGTTCCCTCCCCGACCAGTGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTGCAGCTCCGACTGGACAGTGAAGATCTGGGACCACACCATCAAGTGAGGGGCCTGTTCCTGGCTCTGCCTGGGGCCCTCCCCTGGGCTATGGCACTGTGAGCCCTCTGTGCCATGGGCTTTCCACCCTCCACCTCTGCAGGACCCCGATGTTCATCTATGACCTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCAGTCACCACAGATGGGAAGGTGAGTGCCAGCGTCCTGACTTCACTGAGTCCCTACTGGAGATCAGGTGTGTTATCTCAGGGGCTTCCTGATGGAGAACCCATCCCATGCCTAGGTCAGGAAGGAGAAGGCGGGACATAAGGACTGTGTATTTTCCAGGGGCAAGCCATCCAGGGTCCAGCCAAAAGAGGAATCATTCATCCCATGAGGCTTCAGGGAGGAAACAGAGCTGTTCACCTTGGAGGAGAAAGCACTCTGGGGGATGAGATGCCATGGAGCAGTTATTTCCTCTGCTGTATGGTGGAGAGCTAGAGGGTGGCAGGGCCCGGCTCCATCTAAGGAAAAATGTATGAGCCAGAGTTGATCAGTGACTGAATAGTGTCTATAATGTAGTGAAGTCTCCATCCCCGGGAGTGTGCAAGCTGATTCTGAGGGAACTTCAGTGGGGTGGAATGGGAGGGGGCTATTCAACACTGAGAATTGGTGAGAGCTCAGAAACAAACATCTTGTGAGCATATTCTTGAATGCAAACCCATTTTCCCTATGGACTTTGATATAAACTGAGAAGCACTGGCTGCCCCAAGGAAAGAATGCAGCGATGAAGGCACCATTCTAAAGTCCGTCAGTCATCTCTTCCTGGAACAGATAACTACTAAGGGCCAACGATGGTGCCCAGCTCTAGGCTGGACCCTGGTGGCTTAGATACCTGCTCTTGTGGAGCTTATGTTCTAGTGAAGGGAAAGATACAAAAAGCAACAACAAAATTCCCAGTGTTCTAGGCAGAGAATTATTAATAAAAGACTGTGATATGTAAACATAAATGTTCATGGCAGCATTACTCATAACAGTCAGAGTGGCAACAACCCAGTGTCCATCAACTGCTGAATAGATAAACAAAATATAGTCTCTCCTTGGGGATTATGTCAGCAAGGACAAGGAATGATGTGCTGATACATGCTACAACATGGAGGAACCTTGACAACATGCTTAGCGTAAAAAGCCAGTCACAAAAGACCACATACTGTATAATTCCACTTCTATAATACATCCAAAACAGGCAAATTTGTAGAGATGGAAAGTCAATTTGTGTGGCCTAGGGTGGTGAAAATGTTCTAAAATCGGTTGTAGAGAAGGTTGCATAACTGTGAATATACTAACACCAAGAATTTGATGCTTTAAATGAGTGAATTTTATAGTATATGAATTATATCTCAATAAAGTTGTTACATTAAAAGAAGAAAGATAGGTTCACAAAGGCCAGGCAATGAAAAAGAAAAAAAGAAAAAGAAAAAATAAAAGGACTGGGTGGTCTGTTGGATACAGTGGTCAGGAAAGGCTTCTTTGAAGAGGTGACACGCACGCTGAGAGTTGACTGGCAAGAAGGAGGCAGCCATGTGGAGATAGGGCAGGGGAGCAGCCCATGGTGAGGGAGCAGCTGGGGCAGATGCCCTGAGGTGGGAACCAGCTTGGGGTTTAAGGAACAGGAAGGCAAGTGTGGTTGGGGTAGAGTAAGCAAGGGGCGAGAACATGAGGTGAGAGTGGGGAGGTGGGCTAGAGTGTGGGATCTGGATTTTATTTATAGTGCCAAGGGAGACTGTGGGAGGATTTTAAGTGCTTTAAAGGTAAGCCTACTGCCATATGGAGGATGGATTGTAACAAGGCAAGAGTGGAAGCGGGGAGACCAGTTAAGAGGCTGCCACAGTTGTCCAGGTGAGAGTTGGTAGTGGTTTGGTCTGAGGGTGTGGTGAAGGTAGCATCCAACATGGAATGAGCACTGGTATGTCAAGCACTGTCCTTGCACTTTACATATATTAACTGGTGTAAGCCCT
|
GGCCTGGCCAGGTCATTCAGGCCCAGTGAGGGTCAGTGACAGTGGTCCTTCCCCTGACTGAGTGCTCCCTCCCCAACCTGTGCCAGGGCCTGACAGGAGATTGTAGGAAGGCCCGGCCCTGTCTGCTGAACCCTTGGCTGTTTGTAGACCCTCCCTGTTTATGCAGTTCCCATCCCTGTGTTTGCAGACCCTGTTCCTGTTTATGCAGATCAGGTGCTGTTATGCAGATCCAGCCCTGTTTATGCAGATCAGGCCCCTGTTTACCCAGATCCTGTCCCTGTTTACTCAATTCCTACCCTGTTTATGCAGACTATATCCCTGTTGGCACAGACCGTGTCCCTGTTTGCAGACCCTGTCCCTGTTTACCCTGACCCTGACCCTGTTTAACTCAATCCCTGCCTTGTTTACCCAGGCCCCCATTCCTGTCTGCAGAACCCCTGGCCGTTTGCAGAATCCTAACTGCCTGGGACAAGCAGGCCAGAGGGCTGGTTTCTGTTTGCCTGGCCTGGTCCCAGCCCTTACAGGGGCCCTAGTTCAGTCTGTCCTGCGCTGAGTCCTGCGCTGAGAGTGCCTGGGCTGAGCTCCTCTGCTGAGTAGGGGAGGCACTGGGAGCCTCCCTCTTGGAACTGGGCTAAGCCTGCCCCTCCCTCTTTTCCCAAGGTTGTGGCACTGCCTTTGACTTCCACAAAGAGATTGACTACATGTTCCTAGTGGGCACAGAGGAGGGAAAAATCTACAAGGTGAGGCTGCCCTGTGCCAGCTCCTTAGAAGGCCGCTTAGACCTGAGCACCTGGGGAGCTTAGAGTTCTCAACAGATCCTATTTTGATGGATTTTAGTTCCCGTCAGTTCTAGAAGGCCTCTTGAGGGAAGAGAATGTATTTCTTGACCTGCTTGGGTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACAAGGTCTCAGTGGTAGTAGGTGAACGTCCTTCTGAACTTCCATCCATCCAGAAATAGCTCTGCTGCAAGCTTTTCTTAGGCTCAGAGACTCAGAATGTTAATTACAGGCAGCCTCTTGGGAGCCCCTGAGGCCCAGCCAGAGCTGGTCTGAATGCAAAAGAAGTCCCCACCCCCTCTTCACCCCTCCCACTGGCAGCCCAGGAGAGGCAGGAGTAACAAGAGATTACTCAGTCACACTGTCTTCTGGAGGGAGGGAGAAAGGGGCATGCTGGTCAGGGCAAAAAACTGAATAGGAAAGCTGGAGATCCAAGTCAGCTTCTGGCTCTGCACCTGCTCTTGCCTGGACAAGGTGGGATGTTATCACTGTTGCAAGGATGATGTCTGGGCTGCAGGTGGAACCAGGGCTCTGTTTGTCCACAGGTCCTGGCCTGGAAGATGGCCAGACCACACCTCACTCAGGGCCTGAGACCTGCTCTGCCCTCTCTTAAGGAGAGAAGGCTTTTTCTGTCTGGCCTGGAATCCTCTGGGGTCAGGGCACTACAGCCCTTTCCTTCATCCTGCAGGAAGTCTCCCCTGCCCATCCTGAACCCCCAGATCCTCAAGCCCTTCCTTTCCCCCAGGGTGTGCTGAGGGTGGGAAGGGCAGCCAGGAGCTTGGCCCCAGTTCAGCTGGGATGCGATGTGGGTTAAGGACAGGAGTCTAAGGCTCTGATCCTCCAGACCCCCAGGGAAGTGGTGGCTGCTGACCTTTCTCTCACTTCTGACCCCCGTTCCCTCCCCGACCAGTGCTCTAAATCCTACTCCAGCCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGGACACTGTGTCCTGGAACCCATACCACACCAAGGTCTTCATGTCCTACAGCTCCGACTGGACAGTGAAGATCTGGGACCACACCATCAAGTGAGGGGCCTGTTCCTGGCTCTGCCTGGGGCCCTCCCCTGGGCTATGGCACTGTGAGCCCTCTGTGCCATGGGCTTTCCACCCTCCACCTCTGCAGGACCCCGATGTTCATCTATGACCTGAACTCAGCCGTGGGTGATGTGGCCTGGGCGCCATACTCTTCTACTGTGTTCGCAGCAGTCACCACAGATGGGAAGGTGAGTGCCAGCGTCCTGACTTCACTGAGTCCCTACTGGAGATCAGGTGTGTTATCTCAGGGGCTTCCTGATGGAGAACCCATCCCATGCCTAGGTCAGGAAGGAGAAGGCGGGACATAAGGACTGTGTATTTTCCAGGGGCAAGCCATCCAGGGTCCAGCCAAAAGAGGAATCATTCATCCCATGAGGCTTCAGGGAGGAAACAGAGCTGTTCACCTTGGAGGAGAAAGCACTCTGGGGGATGAGATGCCATGGAGCAGTTATTTCCTCTGCTGTATGGTGGAGAGCTAGAGGGTGGCAGGGCCCGGCTCCATCTAAGGAAAAATGTATGAGCCAGAGTTGATCAGTGACTGAATAGTGTCTATAATGTAGTGAAGTCTCCATCCCCGGGAGTGTGCAAGCTGATTCTGAGGGAACTTCAGTGGGGTGGAATGGGAGGGGGCTATTCAACACTGAGAATTGGTGAGAGCTCAGAAACAAACATCTTGTGAGCATATTCTTGAATGCAAACCCATTTTCCCTATGGACTTTGATATAAACTGAGAAGCACTGGCTGCCCCAAGGAAAGAATGCAGCGATGAAGGCACCATTCTAAAGTCCGTCAGTCATCTCTTCCTGGAACAGATAACTACTAAGGGCCAACGATGGTGCCCAGCTCTAGGCTGGACCCTGGTGGCTTAGATACCTGCTCTTGTGGAGCTTATGTTCTAGTGAAGGGAAAGATACAAAAAGCAACAACAAAATTCCCAGTGTTCTAGGCAGAGAATTATTAATAAAAGACTGTGATATGTAAACATAAATGTTCATGGCAGCATTACTCATAACAGTCAGAGTGGCAACAACCCAGTGTCCATCAACTGCTGAATAGATAAACAAAATATAGTCTCTCCTTGGGGATTATGTCAGCAAGGACAAGGAATGATGTGCTGATACATGCTACAACATGGAGGAACCTTGACAACATGCTTAGCGTAAAAAGCCAGTCACAAAAGACCACATACTGTATAATTCCACTTCTATAATACATCCAAAACAGGCAAATTTGTAGAGATGGAAAGTCAATTTGTGTGGCCTAGGGTGGTGAAAATGTTCTAAAATCGGTTGTAGAGAAGGTTGCATAACTGTGAATATACTAACACCAAGAATTTGATGCTTTAAATGAGTGAATTTTATAGTATATGAATTATATCTCAATAAAGTTGTTACATTAAAAGAAGAAAGATAGGTTCACAAAGGCCAGGCAATGAAAAAGAAAAAAAGAAAAAGAAAAAATAAAAGGACTGGGTGGTCTGTTGGATACAGTGGTCAGGAAAGGCTTCTTTGAAGAGGTGACACGCACGCTGAGAGTTGACTGGCAAGAAGGAGGCAGCCATGTGGAGATAGGGCAGGGGAGCAGCCCATGGTGAGGGAGCAGCTGGGGCAGATGCCCTGAGGTGGGAACCAGCTTGGGGTTTAAGGAACAGGAAGGCAAGTGTGGTTGGGGTAGAGTAAGCAAGGGGCGAGAACATGAGGTGAGAGTGGGGAGGTGGGCTAGAGTGTGGGATCTGGATTTTATTTATAGTGCCAAGGGAGACTGTGGGAGGATTTTAAGTGCTTTAAAGGTAAGCCTACTGCCATATGGAGGATGGATTGTAACAAGGCAAGAGTGGAAGCGGGGAGACCAGTTAAGAGGCTGCCACAGTTGTCCAGGTGAGAGTTGGTAGTGGTTTGGTCTGAGGGTGTGGTGAAGGTAGCATCCAACATGGAATGAGCACTGGTATGTCAAGCACTGTCCTTGCACTTTACATATATTAACTGGTGTAAGCCCT
|
Task1_train_12729
|
Assess the clinical impact of this variant on gene SIGMAR1 (sigma non-opioid intracellular receptor 1), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Amyotrophic lateral sclerosis type 16
|
GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGGGCTCCAGCAAGTGGATATGTGCGGGCCTGCCCGCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTGGGGAATGGAGAGGGAGCTTCAGAAAAACAAAAAGCCCTACCTCACTGGGCTGGCCCAGATGGCCACTCCTAAATGTTCTGTGGCATCATCTGACCCACGTCCTCTCTTTGGAGAAGCCATGGACGGCTACCTCGCTTGGCCATGGACCCACTGTATGGAAGTCTGCACTCCCAAGCCTCACTCGAATCAAGCAGAAATTTAGCTAAACCTGGGCTGGGCTTGTAGCTAGGAAAGGGGTAGTTCCAGGACTTGTGAGGCTTTATCTGAAAAGTGTAGCTGTTCAACCACCATGCCTGCGATGCATACACCCAACCTCAAATATACTGGGAAGTCCAGTGCTCTATTTCTTAAGTAAATTGTTTCACTATTAAAAAAAAAAAAAAAAAAAAAAGGCAGGGGAGCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTGGTATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACTGAGCAAGACTCCATCTCAAAAAACAAACAAATAAAAAGATAACTGTCTGTCTTGTCTTTTGGGGTATTGAGAGCATTTCTGATTACCCATTGTCTCCCCAACAGTTGTTGGAATACTGTCTGGGCAAAATTGTGCCTGGGCAGATAAAAATCAGACATGTTTAATAGGAAGTTGTTATGTTTTGTTTCCCCTTGACAGAGGAAAGCAAGAGTCCCTCAGCTCTGCCCCAACCAATCACCTGTGGCTTATGGGAGGGTGGAGGAAGGGAACCATGAGGAGGGCCCCCCCAACACACTCCTTTTCCATGCCATGCTCCCCGCAATTGTGGGCACCCCCCGCGTGAAGGGACCCACTTCTCTGACAGAGCCTTCTTACCCACCTGGGTAGAAGACCTCACTTTTGGTGGTGCCCTCTCTCCACTGGTGGAAGGTGCCAGAGATGATGGTATCCGAGATCTCAGCCCAGTAGCGCCCTGAGTGACAATCGCACATGACACTATCAGGGTATTCGCGCCATTGCATGGCCCAGCCAAACATCAGAAAGGAGGGCATGGGCCCCTTTACAACCCCAGCCTCCCAGTCTGGCCCGCCGCTAGCACTGACCCGAGTGGCCGCGGGAGCCCAAGGCGGTGCCGAAGAGCAGCACATACTCGGACAGCGAGGCGTGCAGAAGGCACATGGCGCCCATCCAGCCACCCGCATTCACGAACACCCACTGCAGCTCCTCGTCGGGCAGCACGTGGCCTGGGTGCAGCCGCCGCAGCTCCACGATCAGACGAGAGAAGGCCAGCTCGTGGTCCAGCCCTGGCGGAGGCAGAGGGGCGGCGGAGTCAGGGCTGGCACCGGTCCTAGGTCCGGGGATGGCGCCTTCGGAACCCTAGGCTCCGCTCCCAGGCCGGCCGCTCCCCTCCCTGCCCTCTGCCCGCTCACCAGCGTACTGCCGCGCCAACTGCGCTATCTCTTCGCGCTGGAAGACGAAGCTCTGCGTACCCAGCCAGAGCCAGACGACCTGGGTCAGCACCGCTGCGACAGCCAGGAGCAGCGCGGCCCACGCCCACCGCCGGCCCACGGCCCACTGCATCCCGGCGGGCGGCCTGGCACGGCGCAGCTCAGGAGGGAGCCGGGGCCTGAGGCTTTGCGCTCACGGCCTCGGAGCCCGCCGGCTGCCCACGAAGCGCTCCCCCGCCACCGCCGTGGTACGGCTCGCCCTGACCAATCGGAGCGGCCCGGGCACCTTGGCACCGCCCTTCGGTTGAACCATTTCCTCGGGGGGAGCACGGAGGAGTGGGGCGGTGCCGCGCAAGGGAGGCAAGGGGGCGGGGCCAAGTCGCCCAGCGGCAGATGTCAGGGTCTTCAGGCGAGGTCTGACCTAGCTAGCGCCACTCTACATACGGATAGGTGTGGGGATAGTGAGACCCAGAATGGACGGGCTCGCCCGAGCTCACTGGCTGGTGAAGCAGACGAGCCCGGAAGTGAAGCCTTCTGGGACTCAACGATTGTTAAGGCCCGCCTTTACCAGGACTGAAGCGGAGAGGAGGCAGTTCAAGCTGGGAGCCCCAGGGTGGGCATTCCAGAGGCGGTGACACCTGAGCAGTGTCTTTAAGAGCTCGCAGAAGGGGCATGCCAGCCCACAGGGACCAGCCCCTAGAGCAAAGGCCTCCGAGGAGAGACAGCTTGGGGTCTTCAGGGGCCTACAATTCCTTCTCTGTTCTGCGGCACAAAATGTGAGAGGAGGCCTTGTAAACCAGCTGAGGGTTATCAGCAAGGGAGGAAGGGGATTAGATTTTGCCACCGAGTGGCACAGGACTGTCGAGTGGAGGGGAGCAAGATGAGTCAGGGAGACCATGACTGTGGGCCAGGTAAGAGGGAAGGTCTGTGTCAGTGGAGATGGAAGAAAGAAATGAGCTTAACAACTCTGGAAATGGAGTTGGCAGGGCTTGATCTCTTCTTCCTGGAATACTCTTTCCCCCTTTATCCTATCCCCACTTTCCCCTTATTTGGCTAACATCCTTTGCATGTCTAGTGGGCAGTTGAGTGTCCAGGTCTCGAAGCTCAGCTCCAGTCTGGAGATAGAGCTGGGAGTTGTCATTCATTCAGATACTTTGTTGGCACTTGTATGTGCCAAGTTCTGTGGTGGCCATTAGGGATATGGCTAGAAACAATGGTCCTACTCCCCAGCTTAGAGATCTCACTGGAGAGTCTACAGAAAACCTCTAAGAATGGATGAAATCTCACAGGGAGAGAGAATAGAGTAAGATAAGGCTAAAGACAGAGCCCTGGAGAGCACCAACAGCAAAGGGTAGGCAGAGGAAGAAGAAAGCAAAAAGGAAAAGAAACAAAAGAGAAAAGAGGTAGCATTGTGCAGTGATTAAGAAATAAACTCTGGAGCTGGACTGCCTGAGTTCAAGGCCTGGCTCCTGCTACCTACTAGTTGTCTGATCTTGGGCAGTTTACTTAAAATCTCTGTAACTTAGTTTTCTTACCTGTAAAATGGAATGGAGATAAGTACCTACCTCATAGTACATATCTTCATTGTGATGAGATTAGATGGGTTAATATTTATAAAGCAGTTAGTGCCTCACATGGTGAGAATTTTATGTGATGGTTATATATATAAAACATAAAGGAACTGGAAAAAAGTAGCCTCATACATTTTTGACCTTAAAGAAAGAAACTGAGGCCGGGCGAGGTGGCTCATA
|
GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGGGCTCCAGCAAGTGGATATGTGCGGGCCTGCCCGCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTGGGGAATGGAGAGGGAGCTTCAGAAAAACAAAAAGCCCTACCTCACTGGGCTGGCCCAGATGGCCACTCCTAAATGTTCTGTGGCATCATCTGACCCACGTCCTCTCTTTGGAGAAGCCATGGACGGCTACCTCGCTTGGCCATGGACCCACTGTATGGAAGTCTGCACTCCCAAGCCTCACTCGAATCAAGCAGAAATTTAGCTAAACCTGGGCTGGGCTTGTAGCTAGGAAAGGGGTAGTTCCAGGACTTGTGAGGCTTTATCTGAAAAGTGTAGCTGTTCAACCACCATGCCTGCGATGCATACACCCAACCTCAAATATACTGGGAAGTCCAGTGCTCTATTTCTTAAGTAAATTGTTTCACTATTAAAAAAAAAAAAAAAAAAAAAAGGCAGGGGAGCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTGGTATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACTGAGCAAGACTCCATCTCAAAAAACAAACAAATAAAAAGATAACTGTCTGTCTTGTCTTTTGGGGTATTGAGAGCATTTCTGATTACCCATTGTCTCCCCAACAGTTGTTGGAATACTGTCTGGGCAAAATTGTGCCTGGGCAGATAAAAATCAGACATGTTTAATAGGAAGTTGTTATGTTTTGTTTCCCCTTGACAGAGGAAAGCAAGAGTCCCTCAGCTCTGCCCCAACCAATCACCTGTGGCTTATGGGAGGGTGGAGGAAGGGAACCATGAGGAGGGCCCCCCCAACACACTCCTTTTCCATGCCATGCTCCCCGCAATTGTGGGCACCCCCCGCGTGAAGGGACCCACTTCTCTGACAGAGCCTTCTTACCCACCTGGGTAGAAGACCTCACTTTTGGTGGTGCCCTCTCTCCACTGGTGGAAGGTGCCAGAGATGATGGTATCCGAGATCTCAGCCCAGTAGCGCCCTGAGTGACAATCGCACATGACACTATCAGGGTATTCGCGCCATTGCATGGCCCAGCCAAACATCAGAAAGGAGGGCATGGGCCCCTTTACAACCCCAGCCTCCCAGTCTGGCCCGCCGCTAGCACTGACCCGAGTGGCCGCGGGAGCCCAAGGCGGTGCCGAAGAGCAGCACATACTGGGACAGCGAGGCGTGCAGAAGGCACATGGCGCCCATCCAGCCACCCGCATTCACGAACACCCACTGCAGCTCCTCGTCGGGCAGCACGTGGCCTGGGTGCAGCCGCCGCAGCTCCACGATCAGACGAGAGAAGGCCAGCTCGTGGTCCAGCCCTGGCGGAGGCAGAGGGGCGGCGGAGTCAGGGCTGGCACCGGTCCTAGGTCCGGGGATGGCGCCTTCGGAACCCTAGGCTCCGCTCCCAGGCCGGCCGCTCCCCTCCCTGCCCTCTGCCCGCTCACCAGCGTACTGCCGCGCCAACTGCGCTATCTCTTCGCGCTGGAAGACGAAGCTCTGCGTACCCAGCCAGAGCCAGACGACCTGGGTCAGCACCGCTGCGACAGCCAGGAGCAGCGCGGCCCACGCCCACCGCCGGCCCACGGCCCACTGCATCCCGGCGGGCGGCCTGGCACGGCGCAGCTCAGGAGGGAGCCGGGGCCTGAGGCTTTGCGCTCACGGCCTCGGAGCCCGCCGGCTGCCCACGAAGCGCTCCCCCGCCACCGCCGTGGTACGGCTCGCCCTGACCAATCGGAGCGGCCCGGGCACCTTGGCACCGCCCTTCGGTTGAACCATTTCCTCGGGGGGAGCACGGAGGAGTGGGGCGGTGCCGCGCAAGGGAGGCAAGGGGGCGGGGCCAAGTCGCCCAGCGGCAGATGTCAGGGTCTTCAGGCGAGGTCTGACCTAGCTAGCGCCACTCTACATACGGATAGGTGTGGGGATAGTGAGACCCAGAATGGACGGGCTCGCCCGAGCTCACTGGCTGGTGAAGCAGACGAGCCCGGAAGTGAAGCCTTCTGGGACTCAACGATTGTTAAGGCCCGCCTTTACCAGGACTGAAGCGGAGAGGAGGCAGTTCAAGCTGGGAGCCCCAGGGTGGGCATTCCAGAGGCGGTGACACCTGAGCAGTGTCTTTAAGAGCTCGCAGAAGGGGCATGCCAGCCCACAGGGACCAGCCCCTAGAGCAAAGGCCTCCGAGGAGAGACAGCTTGGGGTCTTCAGGGGCCTACAATTCCTTCTCTGTTCTGCGGCACAAAATGTGAGAGGAGGCCTTGTAAACCAGCTGAGGGTTATCAGCAAGGGAGGAAGGGGATTAGATTTTGCCACCGAGTGGCACAGGACTGTCGAGTGGAGGGGAGCAAGATGAGTCAGGGAGACCATGACTGTGGGCCAGGTAAGAGGGAAGGTCTGTGTCAGTGGAGATGGAAGAAAGAAATGAGCTTAACAACTCTGGAAATGGAGTTGGCAGGGCTTGATCTCTTCTTCCTGGAATACTCTTTCCCCCTTTATCCTATCCCCACTTTCCCCTTATTTGGCTAACATCCTTTGCATGTCTAGTGGGCAGTTGAGTGTCCAGGTCTCGAAGCTCAGCTCCAGTCTGGAGATAGAGCTGGGAGTTGTCATTCATTCAGATACTTTGTTGGCACTTGTATGTGCCAAGTTCTGTGGTGGCCATTAGGGATATGGCTAGAAACAATGGTCCTACTCCCCAGCTTAGAGATCTCACTGGAGAGTCTACAGAAAACCTCTAAGAATGGATGAAATCTCACAGGGAGAGAGAATAGAGTAAGATAAGGCTAAAGACAGAGCCCTGGAGAGCACCAACAGCAAAGGGTAGGCAGAGGAAGAAGAAAGCAAAAAGGAAAAGAAACAAAAGAGAAAAGAGGTAGCATTGTGCAGTGATTAAGAAATAAACTCTGGAGCTGGACTGCCTGAGTTCAAGGCCTGGCTCCTGCTACCTACTAGTTGTCTGATCTTGGGCAGTTTACTTAAAATCTCTGTAACTTAGTTTTCTTACCTGTAAAATGGAATGGAGATAAGTACCTACCTCATAGTACATATCTTCATTGTGATGAGATTAGATGGGTTAATATTTATAAAGCAGTTAGTGCCTCACATGGTGAGAATTTTATGTGATGGTTATATATATAAAACATAAAGGAACTGGAAAAAAGTAGCCTCATACATTTTTGACCTTAAAGAAAGAAACTGAGGCCGGGCGAGGTGGCTCATA
|
Task1_train_12730
|
A variant affecting Chromosome 9, within the gene SIGMAR1 (sigma non-opioid intracellular receptor 1), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Autosomal recessive distal spinal muscular atrophy 2
|
GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGGGCTCCAGCAAGTGGATATGTGCGGGCCTGCCCGCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTGGGGAATGGAGAGGGAGCTTCAGAAAAACAAAAAGCCCTACCTCACTGGGCTGGCCCAGATGGCCACTCCTAAATGTTCTGTGGCATCATCTGACCCACGTCCTCTCTTTGGAGAAGCCATGGACGGCTACCTCGCTTGGCCATGGACCCACTGTATGGAAGTCTGCACTCCCAAGCCTCACTCGAATCAAGCAGAAATTTAGCTAAACCTGGGCTGGGCTTGTAGCTAGGAAAGGGGTAGTTCCAGGACTTGTGAGGCTTTATCTGAAAAGTGTAGCTGTTCAACCACCATGCCTGCGATGCATACACCCAACCTCAAATATACTGGGAAGTCCAGTGCTCTATTTCTTAAGTAAATTGTTTCACTATTAAAAAAAAAAAAAAAAAAAAAAGGCAGGGGAGCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTGGTATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACTGAGCAAGACTCCATCTCAAAAAACAAACAAATAAAAAGATAACTGTCTGTCTTGTCTTTTGGGGTATTGAGAGCATTTCTGATTACCCATTGTCTCCCCAACAGTTGTTGGAATACTGTCTGGGCAAAATTGTGCCTGGGCAGATAAAAATCAGACATGTTTAATAGGAAGTTGTTATGTTTTGTTTCCCCTTGACAGAGGAAAGCAAGAGTCCCTCAGCTCTGCCCCAACCAATCACCTGTGGCTTATGGGAGGGTGGAGGAAGGGAACCATGAGGAGGGCCCCCCCAACACACTCCTTTTCCATGCCATGCTCCCCGCAATTGTGGGCACCCCCCGCGTGAAGGGACCCACTTCTCTGACAGAGCCTTCTTACCCACCTGGGTAGAAGACCTCACTTTTGGTGGTGCCCTCTCTCCACTGGTGGAAGGTGCCAGAGATGATGGTATCCGAGATCTCAGCCCAGTAGCGCCCTGAGTGACAATCGCACATGACACTATCAGGGTATTCGCGCCATTGCATGGCCCAGCCAAACATCAGAAAGGAGGGCATGGGCCCCTTTACAACCCCAGCCTCCCAGTCTGGCCCGCCGCTAGCACTGACCCGAGTGGCCGCGGGAGCCCAAGGCGGTGCCGAAGAGCAGCACATACTCGGACAGCGAGGCGTGCAGAAGGCACATGGCGCCCATCCAGCCACCCGCATTCACGAACACCCACTGCAGCTCCTCGTCGGGCAGCACGTGGCCTGGGTGCAGCCGCCGCAGCTCCACGATCAGACGAGAGAAGGCCAGCTCGTGGTCCAGCCCTGGCGGAGGCAGAGGGGCGGCGGAGTCAGGGCTGGCACCGGTCCTAGGTCCGGGGATGGCGCCTTCGGAACCCTAGGCTCCGCTCCCAGGCCGGCCGCTCCCCTCCCTGCCCTCTGCCCGCTCACCAGCGTACTGCCGCGCCAACTGCGCTATCTCTTCGCGCTGGAAGACGAAGCTCTGCGTACCCAGCCAGAGCCAGACGACCTGGGTCAGCACCGCTGCGACAGCCAGGAGCAGCGCGGCCCACGCCCACCGCCGGCCCACGGCCCACTGCATCCCGGCGGGCGGCCTGGCACGGCGCAGCTCAGGAGGGAGCCGGGGCCTGAGGCTTTGCGCTCACGGCCTCGGAGCCCGCCGGCTGCCCACGAAGCGCTCCCCCGCCACCGCCGTGGTACGGCTCGCCCTGACCAATCGGAGCGGCCCGGGCACCTTGGCACCGCCCTTCGGTTGAACCATTTCCTCGGGGGGAGCACGGAGGAGTGGGGCGGTGCCGCGCAAGGGAGGCAAGGGGGCGGGGCCAAGTCGCCCAGCGGCAGATGTCAGGGTCTTCAGGCGAGGTCTGACCTAGCTAGCGCCACTCTACATACGGATAGGTGTGGGGATAGTGAGACCCAGAATGGACGGGCTCGCCCGAGCTCACTGGCTGGTGAAGCAGACGAGCCCGGAAGTGAAGCCTTCTGGGACTCAACGATTGTTAAGGCCCGCCTTTACCAGGACTGAAGCGGAGAGGAGGCAGTTCAAGCTGGGAGCCCCAGGGTGGGCATTCCAGAGGCGGTGACACCTGAGCAGTGTCTTTAAGAGCTCGCAGAAGGGGCATGCCAGCCCACAGGGACCAGCCCCTAGAGCAAAGGCCTCCGAGGAGAGACAGCTTGGGGTCTTCAGGGGCCTACAATTCCTTCTCTGTTCTGCGGCACAAAATGTGAGAGGAGGCCTTGTAAACCAGCTGAGGGTTATCAGCAAGGGAGGAAGGGGATTAGATTTTGCCACCGAGTGGCACAGGACTGTCGAGTGGAGGGGAGCAAGATGAGTCAGGGAGACCATGACTGTGGGCCAGGTAAGAGGGAAGGTCTGTGTCAGTGGAGATGGAAGAAAGAAATGAGCTTAACAACTCTGGAAATGGAGTTGGCAGGGCTTGATCTCTTCTTCCTGGAATACTCTTTCCCCCTTTATCCTATCCCCACTTTCCCCTTATTTGGCTAACATCCTTTGCATGTCTAGTGGGCAGTTGAGTGTCCAGGTCTCGAAGCTCAGCTCCAGTCTGGAGATAGAGCTGGGAGTTGTCATTCATTCAGATACTTTGTTGGCACTTGTATGTGCCAAGTTCTGTGGTGGCCATTAGGGATATGGCTAGAAACAATGGTCCTACTCCCCAGCTTAGAGATCTCACTGGAGAGTCTACAGAAAACCTCTAAGAATGGATGAAATCTCACAGGGAGAGAGAATAGAGTAAGATAAGGCTAAAGACAGAGCCCTGGAGAGCACCAACAGCAAAGGGTAGGCAGAGGAAGAAGAAAGCAAAAAGGAAAAGAAACAAAAGAGAAAAGAGGTAGCATTGTGCAGTGATTAAGAAATAAACTCTGGAGCTGGACTGCCTGAGTTCAAGGCCTGGCTCCTGCTACCTACTAGTTGTCTGATCTTGGGCAGTTTACTTAAAATCTCTGTAACTTAGTTTTCTTACCTGTAAAATGGAATGGAGATAAGTACCTACCTCATAGTACATATCTTCATTGTGATGAGATTAGATGGGTTAATATTTATAAAGCAGTTAGTGCCTCACATGGTGAGAATTTTATGTGATGGTTATATATATAAAACATAAAGGAACTGGAAAAAAGTAGCCTCATACATTTTTGACCTTAAAGAAAGAAACTGAGGCCGGGCGAGGTGGCTCATA
|
GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGGGCTCCAGCAAGTGGATATGTGCGGGCCTGCCCGCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTGGGGAATGGAGAGGGAGCTTCAGAAAAACAAAAAGCCCTACCTCACTGGGCTGGCCCAGATGGCCACTCCTAAATGTTCTGTGGCATCATCTGACCCACGTCCTCTCTTTGGAGAAGCCATGGACGGCTACCTCGCTTGGCCATGGACCCACTGTATGGAAGTCTGCACTCCCAAGCCTCACTCGAATCAAGCAGAAATTTAGCTAAACCTGGGCTGGGCTTGTAGCTAGGAAAGGGGTAGTTCCAGGACTTGTGAGGCTTTATCTGAAAAGTGTAGCTGTTCAACCACCATGCCTGCGATGCATACACCCAACCTCAAATATACTGGGAAGTCCAGTGCTCTATTTCTTAAGTAAATTGTTTCACTATTAAAAAAAAAAAAAAAAAAAAAAGGCAGGGGAGCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTGGTATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACTGAGCAAGACTCCATCTCAAAAAACAAACAAATAAAAAGATAACTGTCTGTCTTGTCTTTTGGGGTATTGAGAGCATTTCTGATTACCCATTGTCTCCCCAACAGTTGTTGGAATACTGTCTGGGCAAAATTGTGCCTGGGCAGATAAAAATCAGACATGTTTAATAGGAAGTTGTTATGTTTTGTTTCCCCTTGACAGAGGAAAGCAAGAGTCCCTCAGCTCTGCCCCAACCAATCACCTGTGGCTTATGGGAGGGTGGAGGAAGGGAACCATGAGGAGGGCCCCCCCAACACACTCCTTTTCCATGCCATGCTCCCCGCAATTGTGGGCACCCCCCGCGTGAAGGGACCCACTTCTCTGACAGAGCCTTCTTACCCACCTGGGTAGAAGACCTCACTTTTGGTGGTGCCCTCTCTCCACTGGTGGAAGGTGCCAGAGATGATGGTATCCGAGATCTCAGCCCAGTAGCGCCCTGAGTGACAATCGCACATGACACTATCAGGGTATTCGCGCCATTGCATGGCCCAGCCAAACATCAGAAAGGAGGGCATGGGCCCCTTTACAACCCCAGCCTCCCAGTCTGGCCCGCCGCTAGCACTGACCCGAGTGGCCGCGGGAGCCCAAGGCGGTGCCGAAGAGCAGCACATACTGGGACAGCGAGGCGTGCAGAAGGCACATGGCGCCCATCCAGCCACCCGCATTCACGAACACCCACTGCAGCTCCTCGTCGGGCAGCACGTGGCCTGGGTGCAGCCGCCGCAGCTCCACGATCAGACGAGAGAAGGCCAGCTCGTGGTCCAGCCCTGGCGGAGGCAGAGGGGCGGCGGAGTCAGGGCTGGCACCGGTCCTAGGTCCGGGGATGGCGCCTTCGGAACCCTAGGCTCCGCTCCCAGGCCGGCCGCTCCCCTCCCTGCCCTCTGCCCGCTCACCAGCGTACTGCCGCGCCAACTGCGCTATCTCTTCGCGCTGGAAGACGAAGCTCTGCGTACCCAGCCAGAGCCAGACGACCTGGGTCAGCACCGCTGCGACAGCCAGGAGCAGCGCGGCCCACGCCCACCGCCGGCCCACGGCCCACTGCATCCCGGCGGGCGGCCTGGCACGGCGCAGCTCAGGAGGGAGCCGGGGCCTGAGGCTTTGCGCTCACGGCCTCGGAGCCCGCCGGCTGCCCACGAAGCGCTCCCCCGCCACCGCCGTGGTACGGCTCGCCCTGACCAATCGGAGCGGCCCGGGCACCTTGGCACCGCCCTTCGGTTGAACCATTTCCTCGGGGGGAGCACGGAGGAGTGGGGCGGTGCCGCGCAAGGGAGGCAAGGGGGCGGGGCCAAGTCGCCCAGCGGCAGATGTCAGGGTCTTCAGGCGAGGTCTGACCTAGCTAGCGCCACTCTACATACGGATAGGTGTGGGGATAGTGAGACCCAGAATGGACGGGCTCGCCCGAGCTCACTGGCTGGTGAAGCAGACGAGCCCGGAAGTGAAGCCTTCTGGGACTCAACGATTGTTAAGGCCCGCCTTTACCAGGACTGAAGCGGAGAGGAGGCAGTTCAAGCTGGGAGCCCCAGGGTGGGCATTCCAGAGGCGGTGACACCTGAGCAGTGTCTTTAAGAGCTCGCAGAAGGGGCATGCCAGCCCACAGGGACCAGCCCCTAGAGCAAAGGCCTCCGAGGAGAGACAGCTTGGGGTCTTCAGGGGCCTACAATTCCTTCTCTGTTCTGCGGCACAAAATGTGAGAGGAGGCCTTGTAAACCAGCTGAGGGTTATCAGCAAGGGAGGAAGGGGATTAGATTTTGCCACCGAGTGGCACAGGACTGTCGAGTGGAGGGGAGCAAGATGAGTCAGGGAGACCATGACTGTGGGCCAGGTAAGAGGGAAGGTCTGTGTCAGTGGAGATGGAAGAAAGAAATGAGCTTAACAACTCTGGAAATGGAGTTGGCAGGGCTTGATCTCTTCTTCCTGGAATACTCTTTCCCCCTTTATCCTATCCCCACTTTCCCCTTATTTGGCTAACATCCTTTGCATGTCTAGTGGGCAGTTGAGTGTCCAGGTCTCGAAGCTCAGCTCCAGTCTGGAGATAGAGCTGGGAGTTGTCATTCATTCAGATACTTTGTTGGCACTTGTATGTGCCAAGTTCTGTGGTGGCCATTAGGGATATGGCTAGAAACAATGGTCCTACTCCCCAGCTTAGAGATCTCACTGGAGAGTCTACAGAAAACCTCTAAGAATGGATGAAATCTCACAGGGAGAGAGAATAGAGTAAGATAAGGCTAAAGACAGAGCCCTGGAGAGCACCAACAGCAAAGGGTAGGCAGAGGAAGAAGAAAGCAAAAAGGAAAAGAAACAAAAGAGAAAAGAGGTAGCATTGTGCAGTGATTAAGAAATAAACTCTGGAGCTGGACTGCCTGAGTTCAAGGCCTGGCTCCTGCTACCTACTAGTTGTCTGATCTTGGGCAGTTTACTTAAAATCTCTGTAACTTAGTTTTCTTACCTGTAAAATGGAATGGAGATAAGTACCTACCTCATAGTACATATCTTCATTGTGATGAGATTAGATGGGTTAATATTTATAAAGCAGTTAGTGCCTCACATGGTGAGAATTTTATGTGATGGTTATATATATAAAACATAAAGGAACTGGAAAAAAGTAGCCTCATACATTTTTGACCTTAAAGAAAGAAACTGAGGCCGGGCGAGGTGGCTCATA
|
Task1_train_12731
|
This alteration in SIGMAR1 (sigma non-opioid intracellular receptor 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Inborn genetic diseases
|
GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGGGCTCCAGCAAGTGGATATGTGCGGGCCTGCCCGCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTGGGGAATGGAGAGGGAGCTTCAGAAAAACAAAAAGCCCTACCTCACTGGGCTGGCCCAGATGGCCACTCCTAAATGTTCTGTGGCATCATCTGACCCACGTCCTCTCTTTGGAGAAGCCATGGACGGCTACCTCGCTTGGCCATGGACCCACTGTATGGAAGTCTGCACTCCCAAGCCTCACTCGAATCAAGCAGAAATTTAGCTAAACCTGGGCTGGGCTTGTAGCTAGGAAAGGGGTAGTTCCAGGACTTGTGAGGCTTTATCTGAAAAGTGTAGCTGTTCAACCACCATGCCTGCGATGCATACACCCAACCTCAAATATACTGGGAAGTCCAGTGCTCTATTTCTTAAGTAAATTGTTTCACTATTAAAAAAAAAAAAAAAAAAAAAAGGCAGGGGAGCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTGGTATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACTGAGCAAGACTCCATCTCAAAAAACAAACAAATAAAAAGATAACTGTCTGTCTTGTCTTTTGGGGTATTGAGAGCATTTCTGATTACCCATTGTCTCCCCAACAGTTGTTGGAATACTGTCTGGGCAAAATTGTGCCTGGGCAGATAAAAATCAGACATGTTTAATAGGAAGTTGTTATGTTTTGTTTCCCCTTGACAGAGGAAAGCAAGAGTCCCTCAGCTCTGCCCCAACCAATCACCTGTGGCTTATGGGAGGGTGGAGGAAGGGAACCATGAGGAGGGCCCCCCCAACACACTCCTTTTCCATGCCATGCTCCCCGCAATTGTGGGCACCCCCCGCGTGAAGGGACCCACTTCTCTGACAGAGCCTTCTTACCCACCTGGGTAGAAGACCTCACTTTTGGTGGTGCCCTCTCTCCACTGGTGGAAGGTGCCAGAGATGATGGTATCCGAGATCTCAGCCCAGTAGCGCCCTGAGTGACAATCGCACATGACACTATCAGGGTATTCGCGCCATTGCATGGCCCAGCCAAACATCAGAAAGGAGGGCATGGGCCCCTTTACAACCCCAGCCTCCCAGTCTGGCCCGCCGCTAGCACTGACCCGAGTGGCCGCGGGAGCCCAAGGCGGTGCCGAAGAGCAGCACATACTCGGACAGCGAGGCGTGCAGAAGGCACATGGCGCCCATCCAGCCACCCGCATTCACGAACACCCACTGCAGCTCCTCGTCGGGCAGCACGTGGCCTGGGTGCAGCCGCCGCAGCTCCACGATCAGACGAGAGAAGGCCAGCTCGTGGTCCAGCCCTGGCGGAGGCAGAGGGGCGGCGGAGTCAGGGCTGGCACCGGTCCTAGGTCCGGGGATGGCGCCTTCGGAACCCTAGGCTCCGCTCCCAGGCCGGCCGCTCCCCTCCCTGCCCTCTGCCCGCTCACCAGCGTACTGCCGCGCCAACTGCGCTATCTCTTCGCGCTGGAAGACGAAGCTCTGCGTACCCAGCCAGAGCCAGACGACCTGGGTCAGCACCGCTGCGACAGCCAGGAGCAGCGCGGCCCACGCCCACCGCCGGCCCACGGCCCACTGCATCCCGGCGGGCGGCCTGGCACGGCGCAGCTCAGGAGGGAGCCGGGGCCTGAGGCTTTGCGCTCACGGCCTCGGAGCCCGCCGGCTGCCCACGAAGCGCTCCCCCGCCACCGCCGTGGTACGGCTCGCCCTGACCAATCGGAGCGGCCCGGGCACCTTGGCACCGCCCTTCGGTTGAACCATTTCCTCGGGGGGAGCACGGAGGAGTGGGGCGGTGCCGCGCAAGGGAGGCAAGGGGGCGGGGCCAAGTCGCCCAGCGGCAGATGTCAGGGTCTTCAGGCGAGGTCTGACCTAGCTAGCGCCACTCTACATACGGATAGGTGTGGGGATAGTGAGACCCAGAATGGACGGGCTCGCCCGAGCTCACTGGCTGGTGAAGCAGACGAGCCCGGAAGTGAAGCCTTCTGGGACTCAACGATTGTTAAGGCCCGCCTTTACCAGGACTGAAGCGGAGAGGAGGCAGTTCAAGCTGGGAGCCCCAGGGTGGGCATTCCAGAGGCGGTGACACCTGAGCAGTGTCTTTAAGAGCTCGCAGAAGGGGCATGCCAGCCCACAGGGACCAGCCCCTAGAGCAAAGGCCTCCGAGGAGAGACAGCTTGGGGTCTTCAGGGGCCTACAATTCCTTCTCTGTTCTGCGGCACAAAATGTGAGAGGAGGCCTTGTAAACCAGCTGAGGGTTATCAGCAAGGGAGGAAGGGGATTAGATTTTGCCACCGAGTGGCACAGGACTGTCGAGTGGAGGGGAGCAAGATGAGTCAGGGAGACCATGACTGTGGGCCAGGTAAGAGGGAAGGTCTGTGTCAGTGGAGATGGAAGAAAGAAATGAGCTTAACAACTCTGGAAATGGAGTTGGCAGGGCTTGATCTCTTCTTCCTGGAATACTCTTTCCCCCTTTATCCTATCCCCACTTTCCCCTTATTTGGCTAACATCCTTTGCATGTCTAGTGGGCAGTTGAGTGTCCAGGTCTCGAAGCTCAGCTCCAGTCTGGAGATAGAGCTGGGAGTTGTCATTCATTCAGATACTTTGTTGGCACTTGTATGTGCCAAGTTCTGTGGTGGCCATTAGGGATATGGCTAGAAACAATGGTCCTACTCCCCAGCTTAGAGATCTCACTGGAGAGTCTACAGAAAACCTCTAAGAATGGATGAAATCTCACAGGGAGAGAGAATAGAGTAAGATAAGGCTAAAGACAGAGCCCTGGAGAGCACCAACAGCAAAGGGTAGGCAGAGGAAGAAGAAAGCAAAAAGGAAAAGAAACAAAAGAGAAAAGAGGTAGCATTGTGCAGTGATTAAGAAATAAACTCTGGAGCTGGACTGCCTGAGTTCAAGGCCTGGCTCCTGCTACCTACTAGTTGTCTGATCTTGGGCAGTTTACTTAAAATCTCTGTAACTTAGTTTTCTTACCTGTAAAATGGAATGGAGATAAGTACCTACCTCATAGTACATATCTTCATTGTGATGAGATTAGATGGGTTAATATTTATAAAGCAGTTAGTGCCTCACATGGTGAGAATTTTATGTGATGGTTATATATATAAAACATAAAGGAACTGGAAAAAAGTAGCCTCATACATTTTTGACCTTAAAGAAAGAAACTGAGGCCGGGCGAGGTGGCTCATA
|
GTCAGACTGAGGCAGTATAATACCCTCCCCCATCCTTAACTCTAGAACCCCGGTTTGGTGGGGAGGAGGTGGGAAGCTGTGGAGCTATGGAAAGGCCTCAGTTAGTGAGTCAAGCTGTGATGTGTGTGTCTGAACACAACTGGCTCCCTTGGTATACCGGGGGCTCCCTCTCCAGATGGGTGTGAGTGCATGGTCCTACTGTACACACAGGTCTCAGTATCTATATGTGTCTCATTTGTTCCCATGGGTCTCTGTGTTTGGATACATAAGCATGGATATCCCTGCTCATACAGCAGGAACTCAGGATCTGCATGGTGTATGTCCCTGTCTGTAAACATGGGCTCCAGCAAGTGGATATGTGCGGGCCTGCCCGCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTACTACCGTCTCCCCTGGGGGACAGGGAGCACCCAAGTGAAAAGCCAGCTCTGCCCTGCCCTTCCATGGCTGCTGCTTCCCTGGCCCATGGACTAACTAGGGGTGGGGAATGGAGAGGGAGCTTCAGAAAAACAAAAAGCCCTACCTCACTGGGCTGGCCCAGATGGCCACTCCTAAATGTTCTGTGGCATCATCTGACCCACGTCCTCTCTTTGGAGAAGCCATGGACGGCTACCTCGCTTGGCCATGGACCCACTGTATGGAAGTCTGCACTCCCAAGCCTCACTCGAATCAAGCAGAAATTTAGCTAAACCTGGGCTGGGCTTGTAGCTAGGAAAGGGGTAGTTCCAGGACTTGTGAGGCTTTATCTGAAAAGTGTAGCTGTTCAACCACCATGCCTGCGATGCATACACCCAACCTCAAATATACTGGGAAGTCCAGTGCTCTATTTCTTAAGTAAATTGTTTCACTATTAAAAAAAAAAAAAAAAAAAAAAGGCAGGGGAGCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTGGTATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACTGAGCAAGACTCCATCTCAAAAAACAAACAAATAAAAAGATAACTGTCTGTCTTGTCTTTTGGGGTATTGAGAGCATTTCTGATTACCCATTGTCTCCCCAACAGTTGTTGGAATACTGTCTGGGCAAAATTGTGCCTGGGCAGATAAAAATCAGACATGTTTAATAGGAAGTTGTTATGTTTTGTTTCCCCTTGACAGAGGAAAGCAAGAGTCCCTCAGCTCTGCCCCAACCAATCACCTGTGGCTTATGGGAGGGTGGAGGAAGGGAACCATGAGGAGGGCCCCCCCAACACACTCCTTTTCCATGCCATGCTCCCCGCAATTGTGGGCACCCCCCGCGTGAAGGGACCCACTTCTCTGACAGAGCCTTCTTACCCACCTGGGTAGAAGACCTCACTTTTGGTGGTGCCCTCTCTCCACTGGTGGAAGGTGCCAGAGATGATGGTATCCGAGATCTCAGCCCAGTAGCGCCCTGAGTGACAATCGCACATGACACTATCAGGGTATTCGCGCCATTGCATGGCCCAGCCAAACATCAGAAAGGAGGGCATGGGCCCCTTTACAACCCCAGCCTCCCAGTCTGGCCCGCCGCTAGCACTGACCCGAGTGGCCGCGGGAGCCCAAGGCGGTGCCGAAGAGCAGCACATACTGGGACAGCGAGGCGTGCAGAAGGCACATGGCGCCCATCCAGCCACCCGCATTCACGAACACCCACTGCAGCTCCTCGTCGGGCAGCACGTGGCCTGGGTGCAGCCGCCGCAGCTCCACGATCAGACGAGAGAAGGCCAGCTCGTGGTCCAGCCCTGGCGGAGGCAGAGGGGCGGCGGAGTCAGGGCTGGCACCGGTCCTAGGTCCGGGGATGGCGCCTTCGGAACCCTAGGCTCCGCTCCCAGGCCGGCCGCTCCCCTCCCTGCCCTCTGCCCGCTCACCAGCGTACTGCCGCGCCAACTGCGCTATCTCTTCGCGCTGGAAGACGAAGCTCTGCGTACCCAGCCAGAGCCAGACGACCTGGGTCAGCACCGCTGCGACAGCCAGGAGCAGCGCGGCCCACGCCCACCGCCGGCCCACGGCCCACTGCATCCCGGCGGGCGGCCTGGCACGGCGCAGCTCAGGAGGGAGCCGGGGCCTGAGGCTTTGCGCTCACGGCCTCGGAGCCCGCCGGCTGCCCACGAAGCGCTCCCCCGCCACCGCCGTGGTACGGCTCGCCCTGACCAATCGGAGCGGCCCGGGCACCTTGGCACCGCCCTTCGGTTGAACCATTTCCTCGGGGGGAGCACGGAGGAGTGGGGCGGTGCCGCGCAAGGGAGGCAAGGGGGCGGGGCCAAGTCGCCCAGCGGCAGATGTCAGGGTCTTCAGGCGAGGTCTGACCTAGCTAGCGCCACTCTACATACGGATAGGTGTGGGGATAGTGAGACCCAGAATGGACGGGCTCGCCCGAGCTCACTGGCTGGTGAAGCAGACGAGCCCGGAAGTGAAGCCTTCTGGGACTCAACGATTGTTAAGGCCCGCCTTTACCAGGACTGAAGCGGAGAGGAGGCAGTTCAAGCTGGGAGCCCCAGGGTGGGCATTCCAGAGGCGGTGACACCTGAGCAGTGTCTTTAAGAGCTCGCAGAAGGGGCATGCCAGCCCACAGGGACCAGCCCCTAGAGCAAAGGCCTCCGAGGAGAGACAGCTTGGGGTCTTCAGGGGCCTACAATTCCTTCTCTGTTCTGCGGCACAAAATGTGAGAGGAGGCCTTGTAAACCAGCTGAGGGTTATCAGCAAGGGAGGAAGGGGATTAGATTTTGCCACCGAGTGGCACAGGACTGTCGAGTGGAGGGGAGCAAGATGAGTCAGGGAGACCATGACTGTGGGCCAGGTAAGAGGGAAGGTCTGTGTCAGTGGAGATGGAAGAAAGAAATGAGCTTAACAACTCTGGAAATGGAGTTGGCAGGGCTTGATCTCTTCTTCCTGGAATACTCTTTCCCCCTTTATCCTATCCCCACTTTCCCCTTATTTGGCTAACATCCTTTGCATGTCTAGTGGGCAGTTGAGTGTCCAGGTCTCGAAGCTCAGCTCCAGTCTGGAGATAGAGCTGGGAGTTGTCATTCATTCAGATACTTTGTTGGCACTTGTATGTGCCAAGTTCTGTGGTGGCCATTAGGGATATGGCTAGAAACAATGGTCCTACTCCCCAGCTTAGAGATCTCACTGGAGAGTCTACAGAAAACCTCTAAGAATGGATGAAATCTCACAGGGAGAGAGAATAGAGTAAGATAAGGCTAAAGACAGAGCCCTGGAGAGCACCAACAGCAAAGGGTAGGCAGAGGAAGAAGAAAGCAAAAAGGAAAAGAAACAAAAGAGAAAAGAGGTAGCATTGTGCAGTGATTAAGAAATAAACTCTGGAGCTGGACTGCCTGAGTTCAAGGCCTGGCTCCTGCTACCTACTAGTTGTCTGATCTTGGGCAGTTTACTTAAAATCTCTGTAACTTAGTTTTCTTACCTGTAAAATGGAATGGAGATAAGTACCTACCTCATAGTACATATCTTCATTGTGATGAGATTAGATGGGTTAATATTTATAAAGCAGTTAGTGCCTCACATGGTGAGAATTTTATGTGATGGTTATATATATAAAACATAAAGGAACTGGAAAAAAGTAGCCTCATACATTTTTGACCTTAAAGAAAGAAACTGAGGCCGGGCGAGGTGGCTCATA
|
Task1_train_12732
|
A sequence alteration has been identified in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is it disease-inducing or harmless?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
AGATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTAACTCACTGGGTCTCTGTCCTGCATTCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTG
|
AGATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTAACTCACTGGGTCTCTGTCCTGCATTCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCGTGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTG
|
Task1_train_12733
|
This variant affects gene GALT (galactose-1-phosphate uridylyltransferase) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTAACTCACTGGGTCTCTGTCCTGCATTCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGT
|
GATGTTCCTGATGGGGGTCAGGATTTAATTAGCATGATTCAGGGGGCGGCACTGAAGCACTGGTGTTCTTGGGAAAATGGAGCTGTCTACAAGCTCTAGTCACTCAAACAAATATAAATGAGAGAATGGAAAAGCAGATCTCCTGTTCCTGTCTCACCTCTTTGGGTAATATGAACAGCCAGTGGGACAGGTAAAACCCCTGTTTCTCAGTCCTCAGCTCCCTGCCCCCTACCTCTGAAGGTAGCCTCTTCCTATTCCAGTCTGAGGACCCTAGGGCAGAGATCAAGTAAATGACCCATGACCTAGTTTTTGCAGCTCAATTGCAAAACACCTGGCTTGGCTTGGTCTTGATTGGGGGAAGGGATGTCCCTGCTATGGCTCAACTTCTAACTCACTGGGTCTCTGTCCTGCATTCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCAGGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGT
|
Task1_train_12734
|
A mutation found in LOC130001683, GALT (ATAC-STARR-seq lymphoblastoid active region 28314| galactose-1-phosphate uridylyltransferase) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGG
|
TCCACTGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCCGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGG
|
Task1_train_12735
|
This is a variant in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
TGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAA
|
TGAAGCCTCAGAGGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATAAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAA
|
Task1_train_12736
|
This sequence variant lies in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAG
|
GGCATCTCACAGCACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGATGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAG
|
Task1_train_12737
|
A mutation found in GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
CACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAA
|
CACTGGGAAAAGCCTTGGAAACTTGCATTCAAATCTCAGCTTGGCCACTAATTCTCTGGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACAGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAA
|
Task1_train_12738
|
This sequence change occurs on Chromosome 9, altering GALT, LOC130001683 (galactose-1-phosphate uridylyltransferase| ATAC-STARR-seq lymphoblastoid active region 28314). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTAC
|
GGGTGACCTTGAGTCCTCTGGGCTCCAATGTGAAATGGGGAAGAGGTTTAGACAATATTTAGATGGCTCTTTAAAAGTACTGGGGGCCAGCTGTTTGGGAGGCTGAGGCAGGAGGATCACTTGAAGTCAGGAGTTCAAGACCAGCCTGGCCAACATGTGAAACCCCGTCTCTACTAAAAATACATAAATTAGCCCAGTGTGGTGGCACACAGCTCTAATTCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCTGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTAC
|
Task1_train_12739
|
A variant was discovered in gene GALT (galactose-1-phosphate uridylyltransferase), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; not specified
|
GCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCT
|
GCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGGACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCT
|
Task1_train_12740
|
A genetic alteration is present in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCT
|
GCACTCCAGCCTGGGTGGCAGAGTGAGACTCTCTCTCAAACAAACAAACAAACAAAAGTACCAGGGGAGGAATTAATTTGAATTTTATCCTAGTGTTAGCCAATTGGTCCCATCCAAGGAAAATTTAGAAAAGGGAAGGGGATGTGTAAAGGAAACACTAGGCCCCACCTAGATGGTGGCTGGAGCTTCTGATAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGGACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCT
|
Task1_train_12741
|
Consider a variant on Chromosome 9 in gene GALT (galactose-1-phosphate uridylyltransferase). Determine its clinical classification and disease relevance.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCC
|
TAGTCCTGTACTCTCCACATTTTTAGACTTTCTTGTACTTTTTTTTTTTTTTTTGTGACGGAGTCTGCTCTGTCGCCAGGCTAGAGTGCATGGGCACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCAAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCC
|
Task1_train_12742
|
A variant was discovered on Chromosome 9, affecting GALT (galactose-1-phosphate uridylyltransferase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; not provided
|
CTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCAC
|
CTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCACGCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCACGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCAC
|
Task1_train_12743
|
Gene GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCA
|
GCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCAAGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCA
|
Task1_train_12744
|
This gene mutation involves GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; GALT-related disorder
|
GCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCA
|
GCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCAAGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCA
|
Task1_train_12745
|
The gene GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCA
|
GCCACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCACGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCA
|
Task1_train_12746
|
Gene GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
ACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATAT
|
ACCAAGACCAGCTAATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTGGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATAT
|
Task1_train_12747
|
With a mutation on Chromosome 9 in gene GALT (galactose-1-phosphate uridylyltransferase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
ATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATT
|
ATTTTTTTTTTTTTTTTTTTTACTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATTTCTTGACCTTGTGATCCGCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCCCGGCCATTTTTAGATTTTTTTTTATAGCCCTTTTACCCCTCCCACTTCTTGTGCTGTCTTGGTGTGTGTATGAAAAAGAGAGAGAGAGAGAGAGGAAGGAGAGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCTGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATT
|
Task1_train_12748
|
Here is a variant affecting GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
AGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGG
|
AGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGATGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGG
|
Task1_train_12749
|
Assess the clinical impact of this variant on gene GALT (galactose-1-phosphate uridylyltransferase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not specified
|
AGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGG
|
AGCAAGAGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGATGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGG
|
Task1_train_12750
|
Consider this mutation in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is this a benign change or a disease-causing variant?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
AGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTG
|
AGTGAGAGAAAAAGAGAATATGGTTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCACGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTG
|
Task1_train_12751
|
This alteration occurs within gene GALT (galactose-1-phosphate uridylyltransferase) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGG
|
TTACTTAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACTCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGG
|
Task1_train_12752
|
The gene GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTT
|
TAGCCCTTTTTCCCAAATCTGTTTTTGCTTTTGGGGATAGGATATGGTTATGGTGAAGTACTCCACACAGACCCCACCAAGTTTGCCTCTCCTGCGCTACAGCCACTGAGCAGGTGACTGAGGCGCTGTTGATCCAGGGTCATATCCTTACTCGCCCTAGAATGTAAGCTCAGGCAGGGCAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCAGTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTT
|
Task1_train_12753
|
Given this context: Chromosome 9, gene GALT (galactose-1-phosphate uridylyltransferase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
CAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACT
|
CAGAGGCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAACAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACT
|
Task1_train_12754
|
Given this variant in gene GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTG
|
GCCATGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTCTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTG
|
Task1_train_12755
|
Here’s a variant in GALT (galactose-1-phosphate uridylyltransferase) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGT
|
TGCCTGACATGTGCATCCCAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCCGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGT
|
Task1_train_12756
|
Consider this mutation in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is this a benign change or a disease-causing variant?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
CAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCA
|
CAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCATGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCA
|
Task1_train_12757
|
An alteration has been detected in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Galactosemia
|
CAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCA
|
CAATGCTTTACACAGCCTAGGTGCCTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCATGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCA
|
Task1_train_12758
|
Assess the clinical impact of this variant on gene GALT (galactose-1-phosphate uridylyltransferase), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
CTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCAT
|
CTAGCACATGCTAGATGCTTGGTAAATATTTGCTGAATGAAAGATCAAATGAATGATTGCAGCAAGCAAGTCCTGTAGGCATCCTGGAGCCCAAGGATTCTGCAGTAGGCAGCTTTCACAGAGGTTCTTCCAGTGTAGTGGCTCTAGCTCTGGGTGAAGTAGGATCATCAATGTCGGCCCCCAGGGTTCACAGCTGTTCTGAGCCCCGCCCCCAGGTGGCAGGGCAGCCCAGTCAGTCAGTCACGTGCTGGCGGCTGGCCAATCATCGGGGGCGGCGCGGGGAGGGGTGGTGTGGACGGAGAAAGTGAAAGGTGAGGCACGGCCCTGCAGATTTTCCAGCGGATCCCCCGGTGGCCTCATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCAGCAGCAACCTTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTCTAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCAT
|
Task1_train_12759
|
This sequence variant lies in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not specified
|
TTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCA
|
TTCCGGGCAAACGGTAACTGCACCGCGGCAGGGACTCGCTGGGGCGCGGAGCCGAGCCCTCCCCTTCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGACCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCA
|
Task1_train_12760
|
This sequence variant lies in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCT
|
TCCTTAGGAAGCTTTCGTCCCCTCCGAAGGTTGGAACGCTCATCCCGAGCCAGACCGACAAGGCGTACAGTCTGCAGGCCTGTACGAGCAGCAGGCCAATTGGCGCTGGGAAAGTCCAATCCTGGGCCTCTAGCTCCTGAGCGGGACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGACCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCT
|
Task1_train_12761
|
A mutation in GALT (galactose-1-phosphate uridylyltransferase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
ACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCC
|
ACAGGGCCGAGAGGGCGCTCCCGAGCTTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAATTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCC
|
Task1_train_12762
|
This sequence change occurs on Chromosome 9, altering GALT (galactose-1-phosphate uridylyltransferase). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTG
|
TTGGGCCTGCTGGTGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTATCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTG
|
Task1_train_12763
|
A variant found in Chromosome 9 affects GALT (galactose-1-phosphate uridylyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTGCGGGCACCATATA
|
TGGGTGAGACCCAGGAGAGAGGGAGCTAGAGAGCTCTGAGGACTGATCTTGACTGTCTGCCCCCAGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAGTGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAGCTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTAGAGCCCTGCATCTGCAGGCTGGGCCACGGGGAGTAGTTCCCTCTTAGAACTGTCCTCCACCCACAGGGATAGTGAACCTCCTTCTGGGTCATATCCCACCAAGCTTTTTGGTCCCCTAGGGTGGGCCTTCCCTACTCCCTTGTAGCCTGTCCAGTCTTTGAAGCCCACCAGGTAACTGGTGGTATGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATAGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTGCGGGCACCATATA
|
Task1_train_12764
|
This mutation occurs in GALT (galactose-1-phosphate uridylyltransferase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
TGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTGCGGGCACCATATACTTCTGCTGCCCTTGTGCCCCAATCATTGCACAAACAGAAACAGCTCTGACAGAGAAGGGACTGCTAGAGTTAGGAACCCTAGGGCCTGGAAGGAAGGTATGGCTCTCAGAGTGACCTGGGGTCTATTCAGTCCCCTCTGGACCTGTTTCCCTGGCAACGCTGTGGGAACAACAGTCTATGCAACACAGGAGACCTGATGCCACTGGTGTCCTCCAAATTTTAAGGCGAAGGCAGGCATTGTGAATGATGCAGGGATGGCCAGAATGGTTTTTGCCTTCGTTCTTTCCCCAGGGGAACCAAGCCTGTGGGTGGGGAAATCACACTAAGGCTGGACAGTGACTGAATCTGGCCCAGGAGAAACTTGGCTGCCTGCCTTCCAGACCAGGGTTTTTCTTCCCTGAGATCCTGGAGGGGAAGTACCTGGAACTTG
|
TGGGGCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCGGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTGCGGGCACCATATACTTCTGCTGCCCTTGTGCCCCAATCATTGCACAAACAGAAACAGCTCTGACAGAGAAGGGACTGCTAGAGTTAGGAACCCTAGGGCCTGGAAGGAAGGTATGGCTCTCAGAGTGACCTGGGGTCTATTCAGTCCCCTCTGGACCTGTTTCCCTGGCAACGCTGTGGGAACAACAGTCTATGCAACACAGGAGACCTGATGCCACTGGTGTCCTCCAAATTTTAAGGCGAAGGCAGGCATTGTGAATGATGCAGGGATGGCCAGAATGGTTTTTGCCTTCGTTCTTTCCCCAGGGGAACCAAGCCTGTGGGTGGGGAAATCACACTAAGGCTGGACAGTGACTGAATCTGGCCCAGGAGAAACTTGGCTGCCTGCCTTCCAGACCAGGGTTTTTCTTCCCTGAGATCCTGGAGGGGAAGTACCTGGAACTTG
|
Task1_train_12765
|
Gene GALT (galactose-1-phosphate uridylyltransferase), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
|
GCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTGCGGGCACCATATACTTCTGCTGCCCTTGTGCCCCAATCATTGCACAAACAGAAACAGCTCTGACAGAGAAGGGACTGCTAGAGTTAGGAACCCTAGGGCCTGGAAGGAAGGTATGGCTCTCAGAGTGACCTGGGGTCTATTCAGTCCCCTCTGGACCTGTTTCCCTGGCAACGCTGTGGGAACAACAGTCTATGCAACACAGGAGACCTGATGCCACTGGTGTCCTCCAAATTTTAAGGCGAAGGCAGGCATTGTGAATGATGCAGGGATGGCCAGAATGGTTTTTGCCTTCGTTCTTTCCCCAGGGGAACCAAGCCTGTGGGTGGGGAAATCACACTAAGGCTGGACAGTGACTGAATCTGGCCCAGGAGAAACTTGGCTGCCTGCCTTCCAGACCAGGGTTTTTCTTCCCTGAGATCCTGGAGGGGAAGTACCTGGAACTTGGGAG
|
GCAGTGAGTGCTTCTAGCCTATCCTTGTCGGTAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCAGCTCTGCAGCCTGATGCCCCCAGTCCAGGTAACCTGGCTCCAACTGCTGCTGGGGAGGAGGGTGGCTAGACCTCTTGAGGGACTTCTGCTGCAGAGAGTGATACTCCTTTACCTCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAGTCTGCTCGAGGAGTCTGGTAACTATGGATTTCCCCTCTTACAACTTTCAAACCAGAGTTGGAGACTCAGCATTGGGGTTCGGCCCTGCCCGTAGCACAGCCAAGCCCTACCTCTCGGTTATCTTTTCTCCCGTCACCACCCAGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGAGGTCGCCCCTTCCCCTGGATGGGCAGGGAGGGGGTGATGAAGCTTTGGTTCTGGGGAGTAACATTTCTGTTTCCACAGGGTGTGGTCAGGAGGGAGTTGACTTGGTGTCTTTTGGCTAACAGAGCTCCGTATCCCTATCTGATAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGTTCTAACCCCCACCCCCACTGCCAGGTAAGGGTGTCAGGGGCTCCAGTGGGTTTCTTGGCTGAGTCTGAGCCAGCACTGTGGACATGGGAACAGGATTAATGGATGGGACAGAGGAAATATGCCAATGATGTGGAGGCTTGGAGGTAAAGGACCTGCCTGTTCTTCTCTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAGCGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAGTACAGCCGCCAGGAGCTACTCAGGAAGGTGGGAGAGAGCCAAGCCCTGTGTCCCCAAGGAGTCCCTAACTTTCTTATCCCATGAGAGAGGTGTGTAAAGGAGAAAGCTAGAGGTGAACTAGTAGAGAGAGACTTGCTAGGAGGCCTTAGCAATAATCCAGTAATCTAAAGGAAAGATGATGGTGACTTAGACTCGGGTGGTTAGTGGTAGAGGTGGTGAGAAGACATCAGATCCTGGGCACATTCTTTTCTTCTGCTTCCCTTGCCTATTTGCTGACCACACTCCGGCTCCTATGTCACCTTGATGACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTAGTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCATGTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGGTCAGTCTCCCAAGTAGGATCCTGGGGCTAGGCACTGGATGGAGGTTGCTCCCAGTAGGGTCAGCATCTGGACCCCAGGCTGAGAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCTATATTTAGCCCCAACACCATTTCTGGGCTCCTGGGGCTCAGCCTAGTGAACTGCAACCTCAAAGGAGCAAGCCTTGAAACAGTTGCTGGGGGAAGTGGCCAGAGTAGAGATGCTGGGACTGAGGGTGGAGCAGCAAACTTGGTGAAACTACATCTCCAATGTGCTTTCTAATCTCCTGCCAGCTCTTCTCAAGCAGGGGATCCTGGGAGATGTAGTTTTCAGATACCTGGTTGGGTTTGGGAGTAGGTGCTAACCTGGATAACTGTAAAAGGGCTCTCTCTCCCCACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAGATTCATGGTTGGCTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGTCAGGACTCAGAACAGTCTGGCGTCTCCAGACTCTCACATGCAGTATGTGCAGGCACCTGATACTTCTGTTGCCCTTGTGCTCCAGTCATTGCACAAGGCAGAAAACAGCTCTGGCAGGAAGGGACTGCCAAAGTTAGGAGCCCTAGGGCCTGGAAGGAGAGTATGGTCCTCAGATCCCCCTTCTCTCCTGCTTCCTCCAGGGAACCCAACAGTCATGACCCTGATAGTTTCCCATAACAACCTGGGCATTCCTTGGGACTCAGGAGCTGCTAAACTCTTTCATCCCCTGGTGGCTTCAGCAGTCCTTATCACCAGCCTCACAATCCCACAGGCCCACCCCCAGTGGGCCTGTGGCATTCATATTTCATATTCATATTTCAAACCACAATATCCAGCAAAATGTCTCCTGAGCACCCAGAACTCCATACCATCGGCCGGGTGTGGTGGCTCATGCCTTAATCCCAGCACTTTGGGAGGTCAAGATGGGAGGATTGCTTGAGCCCAGAAGTTCGAGACTAGCCTGGGAAACATAGGAAGCCCTCGTCTCTACAAAAAAAATTTAAAAAGTTAGCCAGGTATGGTGGCATATACTTGTGGTCCCAGATACTTGGGAGGCTGAGATAGGATCACTTGGGCCCAGGAGTTTGAGGCTGCAGTGAGCCATCATCATGGCATCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCTCGTCTCAAAAAAAAAAAAAAAATGAAGTCCATGCCACCATTCTTGGCAGCCCAGCCCTTATCCTCCTTAATTGCTCCCTGTCCCTTTTCCAGGCTGCAGAGAGACTAAGGGCACTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGACCACGCCGACCACAGGGCCTTGAATCCTTTTTTGTTTTCAACAGTCTTGCTGAATTAAGCAGAAAGGGCCTTGAATCCTGGCCTGGAATTTGGGCAGATATAGCATTAATAAAACTGTGCATCTCAAACTTTTATCACATACTCTAATATCAGAGGAGTGTGAACCTTCAGAGATCTAGGGTTAAAAGCTAAAGGCATAGCTCCAGCTACAACTTTTCTTTGTCTACAGATGTGTAAAATCTTGATGCAAAAATCTACCCCAAATTTCTGAACAAAATTAATATTCAGTATTATATCTAGCCTATAGATTCTCTTACTCTTGGTGTAATGACAGCATTCCCAGTTTAGGAAACTGTTTTAAAATCTTGTGTCTTGGTTGTGGCTGAGGCTTTGGGAAGGCCAGAGCCCCCTTTGCCACCACCCCTAGGGTGTCAGCTCCAAGCCTGGGCCTGAGGGTTTGATGGGGAGCGGGTGAGCTGGATCCTGATCCCAGTGGTCAGTGGCCAGATCCTGGGCTGCTGGCCAGAACCCTGGCTTTGTGAGTGGCTGCAGCTTGGCTCTGCTCCAGCCCACAGGGGCTAAAGGGGCGGGTAGGGAGTGTGTAGGGAGCGTGTACGTGGCTTTGTGTCCTTGGCTCCTCCAGACTCTCACATGTGCGGGCACCATATACTTCTGCTGCCCTTGTGCCCCAATCATTGCACAAACAGAAACAGCTCTGACAGAGAAGGGACTGCTAGAGTTAGGAACCCTAGGGCCTGGAAGGAAGGTATGGCTCTCAGAGTGACCTGGGGTCTATTCAGTCCCCTCTGGACCTGTTTCCCTGGCAACGCTGTGGGAACAACAGTCTATGCAACACAGGAGACCTGATGCCACTGGTGTCCTCCAAATTTTAAGGCGAAGGCAGGCATTGTGAATGATGCAGGGATGGCCAGAATGGTTTTTGCCTTCGTTCTTTCCCCAGGGGAACCAAGCCTGTGGGTGGGGAAATCACACTAAGGCTGGACAGTGACTGAATCTGGCCCAGGAGAAACTTGGCTGCCTGCCTTCCAGACCAGGGTTTTTCTTCCCTGAGATCCTGGAGGGGAAGTACCTGGAACTTGGGAG
|
Task1_train_12766
|
A change on Chromosome 9 affects gene IL11RA (interleukin 11 receptor subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Craniosynostosis and dental anomalies
|
GAGATAGGAGCTGAAGAAGGAAAGGAAGGCAAGGGCTGGCTCACAAGGGGCTTTGAAAGCCAGTAAAAGGAATTTGGGTTCTATTGCAAATGCAGTTAGAAGCCAATGGAGAGCTGTGGCATGGTCTGACTTATGCTTGACATCTTGTCTTTGTCCATTGTCACCTCATCTCACTTCCAGGGACCCAGTGTCCTGGTTTCGGGATGGGGAGCCAAAGCTGCTCCAGGGACCTGACTCTGGGCTAGGGCATGAACTGGTCCTGGCCCAGGCAGACAGCACTGATGAGGGCACCTACATCTGCCAGACCCTGGATGGTGCACTTGGGGGCACAGTGACCCTGCAGCTGGGCTGTGAGTTGGGGAGGGTGGCACTGATGACACATAGGGATCCTGAGGGAGTATGGGACCTAAGTAAGCCCTCTGGGACCAGGAGGACCTGAGGACTGCTCAGTCTCCAGGTGTACCCTCTGCCTCTAGACCCTCCAGCCCGCCCTGTTGTCTCCTGCCAAGCAGCCGACTATGAGAACTTCTCTTGCACTTGGAGTCCCAGCCAGATCAGCGGTTTACCCACCCGCTACCTCACCTCCTACAGGTGTGTGTGTGATTGGGTGTGGATGCCTACACATTTGGGTATGCTGGTGCAATGTGGGTGTGGGAGGCAGGGAGGTAGGTTCTGAGGAAAGCCTCAGAGAGGGCAGAAGGCCCTCTTTTCCTTCCTGACTTCAGATGGCCCCCTCCCCACCAGGAAGAAGACAGTCCTAGGAGCTGATAGCCAGAGGTAGGACGTGAGGGAGCATGTGGGGGCTCCAGCTGGGTCCCACAGTAGGCATTTTCAAAGCCAAAGACCACATCCTCCCTTCTAGGAGGAGTCCATCCACAGGGCCCTGGCCATGCCCACAGGATCCCCTAGGGGCTGCCCGCTGTGTTGTCCACGGGGCTGAGTTCTGGAGCCAGTACCGGATTAATGTGACTGAGGTGAACCCACTGGGTGCCAGCACACGCCTGCTGGATGTGAGCTTGCAGAGCATCTGTGAGTACCCACCCCAGACCTCCCCCAGACCCCCATCACAGAGACCCCAAATGGACTCAGATCTCTCCACTCCCAGAGTTCCCAGTTTCCTCCCAACCTAGACTCCATTTCACACAGAGAAGGCCCTGTGGAGCCTGAGAAGGCAAAGGGATCAGAGCCCAGGAGGCATGGTTATTTCAGCACACACTCTAGAGGCTGCTGCTGCTACCCACACTGCCTGATTGGCTGCCTAGCCTCAGAGCAGGCCCTGTACCGAATGCAGCCATATGTCATGTCCTCCCTTGCTGGCCCCTCCTTCCTTGACCTGTGCATGGGAGTGGGACACTAAAACTCTAGCTGGAATTTGGGCCAATTCATCTTCCTTGGATGAAAATAGGAATTGCTCTTTTATTCACTCAAGAAGCACTTCAAAAGTCCACCCGCAGATCTCAGGTGGTTTCTTTTTTTCTTTCTCTTCCTTTTTTTGTTGAGATAGGGTCTCACTTTGTGCCCAGGCTGGATGAAGTTCAGTGGTGTGATCTTGGCTCACTGAAGCCTGCAACTCCTGGGCTCAAGCTATCCCCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGTCTGGTTAATTTTTAAAATTTTTTGTAGAGACAGGGTTTTGCTACGTTGCCCACGCTGGTCTCAAACTCGTGGCATCAAGTGATCCTCCCGCCTCAGTCTTCCAGAGTGCTGAGATTACAGGCATGAGCCACCACACGCGGCCTCAGCCCATTTCATAATACAGATGACCGGTCTGAGTCTAATGGATGATCAAGTTTAAGATTTCCCCTCCCCTCTCAGGAGTGTCTGGCTAAGGCTCCTTTAAACACACACTTTGGGAAGTGGTGGGGAAGTGATGGAGACCCATAGCCTACCCTGACTTTGTGTCTTGATGCCCTTAGTGCGCCCTGACCCACCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGGACATACCCTGCCTCCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTACCGTCCGGCGCAGCATCCAGCCTGGTCCACGGTGAGGCCTGGAGTGCGTCCCAACCCACGGCTGTGGGTCCTGTCTCTGATTTCACGATCCTGGGTGTTCTGTATAGCTTTCCAGTGCTGGCAGGTCACTGAAGACCCAACACTTCCCTGTGGGCCAGGCTTTGTACTGGGTGCTGGGTTGCAGTGGTGACTGAGAGACTGAATGTCTGTCCTGTGGGGCTATAACTATGAGGTAAAGCACATCTGTGGGAAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCTAAAAATAACTCTTAGGAAAAGGAGTGCCTTTCACCTAGAGGCACATTCTCCTACAAACACTCATATACCCAGCTGAGGATAGCAGTGAATTTGTGTCTCAGGAGATGTTAAAGATTGGCTGGTATCAGGACTAGGGAGCAGCAGCATCAGATAATAACTAATATTTACTTAGTGCTGCCTGCCTGTGGGGTACCTGGCTACACTTTTTGCATACATTGTTTTGTTTAGGTAGATTCACCTCTATTTTACAAATGAAGAAACTGAGTCACAGAGAGGCCCAAAGGGTCATTCAATATGTGGTTCACCAAAGATTTGAACCCAGGCTGCCTGATGCCACAGCCTCTCTAAGTAATCACTACTGCCGTCTTACAAACACTAGGTGTAGACTCAGCTCCACCAGACACCCAACATGAGACCTAGACAGCTCCACTAGGCTTTAGGATGAGACTGGGAGCAAGGGGTGCTCTTTGTAGATGGTGGCTGGGAAGGCCCTGCACTTACAAGCTGGGTAACAGTGAGTCATGTTTACCCCCAGGTGGAGCCAGCTGGACTGGAGGAGGTGATCACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTGGAGCACCTGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTGGTGAGAGACAAAGCCAAAGAAAAGGGCAGAGGCCCCATCCCAAAGCATCTATCAGCTGAACCAGTTCCAAAAGACAGGCAGGTGGCACATGCCCTGCCCACACAGGCACGGCAATTGCTGTCCCAGACTTCAGACTTGTTTGCCTACAGCCCTGTCTTAGCTTAAGTCCTGCCCCTTGGCCTCCACCCCTGCAGTTACAGGCTCCACTTCTACAAGCTTGGAGCTTGCCATGCTCCCTAGGAGCTGGCCATGCCCTATCAGGCTCCTCCTCCTAGGTACCTTGACTTCCAACCTAGGCCTTGGCCTTGAGCACAGGACGTGACCCCCGTCCCCACCAGCGTATGGACACTTATTGGGTCTTGCCTTCCTTTAGGGACCATACCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTGGACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTGGTGAGCTTGGGCAGATGGGCAAGACTTGTAAAGGACTGAAAACCCCAGAGAAAAGGGGACACCGAGCTTGGTCAGGCTTGCTCTCAGTGACATGTGGCCCTCCCCCTCAGATCACAGGGACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTGGTGGCTGGGGCCCTGGCACTGGGGCTCTGGTAAGTGACTGCCATTGGTCCCTCAGCCTCTGATCCTCACACATGCTCTGATGC
|
GAGATAGGAGCTGAAGAAGGAAAGGAAGGCAAGGGCTGGCTCACAAGGGGCTTTGAAAGCCAGTAAAAGGAATTTGGGTTCTATTGCAAATGCAGTTAGAAGCCAATGGAGAGCTGTGGCATGGTCTGACTTATGCTTGACATCTTGTCTTTGTCCATTGTCACCTCATCTCACTTCCAGGGACCCAGTGTCCTGGTTTCGGGATGGGGAGCCAAAGCTGCTCCAGGGACCTGACTCTGGGCTAGGGCATGAACTGGTCCTGGCCCAGGCAGACAGCACTGATGAGGGCACCTACATCTGCCAGACCCTGGATGGTGCACTTGGGGGCACAGTGACCCTGCAGCTGGGCTGTGAGTTGGGGAGGGTGGCACTGATGACACATAGGGATCCTGAGGGAGTATGGGACCTAAGTAAGCCCTCTGGGACCAGGAGGACCTGAGGACTGCTCAGTCTCCAGGTGTACCCTCTGCCTCTAGACCCTCCAGCCCGCCCTGTTGTCTCCTGCCAAGCAGCCGACTATGAGAACTTCTCTTGCACTTGGAGTCCCAGCCAGATCAGCGGTTTACCCACCCGCTACCTCACCTCCTACAGGTGTGTGTGTGATTGGGTGTGGATGCCTACACATTTGGGTATGCTGGTGCAATGTGGGTGTGGGAGGCAGGGAGGTAGGTTCTGAGGAAAGCCTCAGAGAGGGCAGAAGGCCCTCTTTTCCTTCCTGACTTCAGATGGCCCCCTCCCCACCAGGAAGAAGACAGTCCTAGGAGCTGATAGCCAGAGGTAGGACGTGAGGGAGCATGTGGGGGCTCCAGCTGGGTCCCACAGTAGGCATTTTCAAAGCCAAAGACCACATCCTCCCTTCTAGGAGGAGTCCATCCACAGGGCCCTGGCCATGCCCACAGGATCCCCTAGGGGCTGCCCGCTGTGTTGTCCACGGGGCTGAGTTCTGGAGCCAGTACCGGATTAATGTGACTGAGGTGAACCCACTGGGTGCCAGCACACGCCTGCTGGATGTGAGCTTGCAGAGCATCTGTGAGTACCCACCCCAGACCTCCCCCAGACCCCCATCACAGAGACCCCAAATGGACTCAGATCTCTCCACTCCCAGAGTTCCCAGTTTCCTCCCAACCTAGACTCCATTTCACACAGAGAAGGCCCTGTGGAGCCTGAGAAGGCAAAGGGATCAGAGCCCAGGAGGCATGGTTATTTCAGCACACACTCTAGAGGCTGCTGCTGCTACCCACACTGCCTGATTGGCTGCCTAGCCTCAGAGCAGGCCCTGTACCGAATGCAGCCATATGTCATGTCCTCCCTTGCTGGCCCCTCCTTCCTTGACCTGTGCATGGGAGTGGGACACTAAAACTCTAGCTGGAATTTGGGCCAATTCATCTTCCTTGGATGAAAATAGGAATTGCTCTTTTATTCACTCAAGAAGCACTTCAAAAGTCCACCCGCAGATCTCAGGTGGTTTCTTTTTTTCTTTCTCTTCCTTTTTTTGTTGAGATAGGGTCTCACTTTGTGCCCAGGCTGGATGAAGTTCAGTGGTGTGATCTTGGCTCACTGAAGCCTGCAACTCCTGGGCTCAAGCTATCCCCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGTCTGGTTAATTTTTAAAATTTTTTGTAGAGACAGGGTTTTGCTACGTTGCCCACGCTGGTCTCAAACTCGTGGCATCAAGTGATCCTCCCGCCTCAGTCTTCCAGAGTGCTGAGATTACAGGCATGAGCCACCACACGCGGCCTCAGCCCATTTCATAATACAGATGACCGGTCTGAGTCTAATGGATGATCAAGTTTAAGATTTCCCCTCCCCTCTCAGGAGTGTCTGGCTAAGGCTCCTTTAAACACACACTTTGGGAAGTGGTGGGGAAGTGATGGAGACCCATAGCCTACCCTGACTTTGTGTCTTGATGCCCTTAGTGCGCCCTGACCCACCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGGACATACCCTGCCTGCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTACCGTCCGGCGCAGCATCCAGCCTGGTCCACGGTGAGGCCTGGAGTGCGTCCCAACCCACGGCTGTGGGTCCTGTCTCTGATTTCACGATCCTGGGTGTTCTGTATAGCTTTCCAGTGCTGGCAGGTCACTGAAGACCCAACACTTCCCTGTGGGCCAGGCTTTGTACTGGGTGCTGGGTTGCAGTGGTGACTGAGAGACTGAATGTCTGTCCTGTGGGGCTATAACTATGAGGTAAAGCACATCTGTGGGAAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCTAAAAATAACTCTTAGGAAAAGGAGTGCCTTTCACCTAGAGGCACATTCTCCTACAAACACTCATATACCCAGCTGAGGATAGCAGTGAATTTGTGTCTCAGGAGATGTTAAAGATTGGCTGGTATCAGGACTAGGGAGCAGCAGCATCAGATAATAACTAATATTTACTTAGTGCTGCCTGCCTGTGGGGTACCTGGCTACACTTTTTGCATACATTGTTTTGTTTAGGTAGATTCACCTCTATTTTACAAATGAAGAAACTGAGTCACAGAGAGGCCCAAAGGGTCATTCAATATGTGGTTCACCAAAGATTTGAACCCAGGCTGCCTGATGCCACAGCCTCTCTAAGTAATCACTACTGCCGTCTTACAAACACTAGGTGTAGACTCAGCTCCACCAGACACCCAACATGAGACCTAGACAGCTCCACTAGGCTTTAGGATGAGACTGGGAGCAAGGGGTGCTCTTTGTAGATGGTGGCTGGGAAGGCCCTGCACTTACAAGCTGGGTAACAGTGAGTCATGTTTACCCCCAGGTGGAGCCAGCTGGACTGGAGGAGGTGATCACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTGGAGCACCTGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTGGTGAGAGACAAAGCCAAAGAAAAGGGCAGAGGCCCCATCCCAAAGCATCTATCAGCTGAACCAGTTCCAAAAGACAGGCAGGTGGCACATGCCCTGCCCACACAGGCACGGCAATTGCTGTCCCAGACTTCAGACTTGTTTGCCTACAGCCCTGTCTTAGCTTAAGTCCTGCCCCTTGGCCTCCACCCCTGCAGTTACAGGCTCCACTTCTACAAGCTTGGAGCTTGCCATGCTCCCTAGGAGCTGGCCATGCCCTATCAGGCTCCTCCTCCTAGGTACCTTGACTTCCAACCTAGGCCTTGGCCTTGAGCACAGGACGTGACCCCCGTCCCCACCAGCGTATGGACACTTATTGGGTCTTGCCTTCCTTTAGGGACCATACCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTGGACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTGGTGAGCTTGGGCAGATGGGCAAGACTTGTAAAGGACTGAAAACCCCAGAGAAAAGGGGACACCGAGCTTGGTCAGGCTTGCTCTCAGTGACATGTGGCCCTCCCCCTCAGATCACAGGGACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTGGTGGCTGGGGCCCTGGCACTGGGGCTCTGGTAAGTGACTGCCATTGGTCCCTCAGCCTCTGATCCTCACACATGCTCTGATGC
|
Task1_train_12767
|
The gene IL11RA (interleukin 11 receptor subunit alpha) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; not provided
|
CTGCTGCTACCCACACTGCCTGATTGGCTGCCTAGCCTCAGAGCAGGCCCTGTACCGAATGCAGCCATATGTCATGTCCTCCCTTGCTGGCCCCTCCTTCCTTGACCTGTGCATGGGAGTGGGACACTAAAACTCTAGCTGGAATTTGGGCCAATTCATCTTCCTTGGATGAAAATAGGAATTGCTCTTTTATTCACTCAAGAAGCACTTCAAAAGTCCACCCGCAGATCTCAGGTGGTTTCTTTTTTTCTTTCTCTTCCTTTTTTTGTTGAGATAGGGTCTCACTTTGTGCCCAGGCTGGATGAAGTTCAGTGGTGTGATCTTGGCTCACTGAAGCCTGCAACTCCTGGGCTCAAGCTATCCCCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGTCTGGTTAATTTTTAAAATTTTTTGTAGAGACAGGGTTTTGCTACGTTGCCCACGCTGGTCTCAAACTCGTGGCATCAAGTGATCCTCCCGCCTCAGTCTTCCAGAGTGCTGAGATTACAGGCATGAGCCACCACACGCGGCCTCAGCCCATTTCATAATACAGATGACCGGTCTGAGTCTAATGGATGATCAAGTTTAAGATTTCCCCTCCCCTCTCAGGAGTGTCTGGCTAAGGCTCCTTTAAACACACACTTTGGGAAGTGGTGGGGAAGTGATGGAGACCCATAGCCTACCCTGACTTTGTGTCTTGATGCCCTTAGTGCGCCCTGACCCACCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGGACATACCCTGCCTCCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTACCGTCCGGCGCAGCATCCAGCCTGGTCCACGGTGAGGCCTGGAGTGCGTCCCAACCCACGGCTGTGGGTCCTGTCTCTGATTTCACGATCCTGGGTGTTCTGTATAGCTTTCCAGTGCTGGCAGGTCACTGAAGACCCAACACTTCCCTGTGGGCCAGGCTTTGTACTGGGTGCTGGGTTGCAGTGGTGACTGAGAGACTGAATGTCTGTCCTGTGGGGCTATAACTATGAGGTAAAGCACATCTGTGGGAAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCTAAAAATAACTCTTAGGAAAAGGAGTGCCTTTCACCTAGAGGCACATTCTCCTACAAACACTCATATACCCAGCTGAGGATAGCAGTGAATTTGTGTCTCAGGAGATGTTAAAGATTGGCTGGTATCAGGACTAGGGAGCAGCAGCATCAGATAATAACTAATATTTACTTAGTGCTGCCTGCCTGTGGGGTACCTGGCTACACTTTTTGCATACATTGTTTTGTTTAGGTAGATTCACCTCTATTTTACAAATGAAGAAACTGAGTCACAGAGAGGCCCAAAGGGTCATTCAATATGTGGTTCACCAAAGATTTGAACCCAGGCTGCCTGATGCCACAGCCTCTCTAAGTAATCACTACTGCCGTCTTACAAACACTAGGTGTAGACTCAGCTCCACCAGACACCCAACATGAGACCTAGACAGCTCCACTAGGCTTTAGGATGAGACTGGGAGCAAGGGGTGCTCTTTGTAGATGGTGGCTGGGAAGGCCCTGCACTTACAAGCTGGGTAACAGTGAGTCATGTTTACCCCCAGGTGGAGCCAGCTGGACTGGAGGAGGTGATCACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTGGAGCACCTGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTGGTGAGAGACAAAGCCAAAGAAAAGGGCAGAGGCCCCATCCCAAAGCATCTATCAGCTGAACCAGTTCCAAAAGACAGGCAGGTGGCACATGCCCTGCCCACACAGGCACGGCAATTGCTGTCCCAGACTTCAGACTTGTTTGCCTACAGCCCTGTCTTAGCTTAAGTCCTGCCCCTTGGCCTCCACCCCTGCAGTTACAGGCTCCACTTCTACAAGCTTGGAGCTTGCCATGCTCCCTAGGAGCTGGCCATGCCCTATCAGGCTCCTCCTCCTAGGTACCTTGACTTCCAACCTAGGCCTTGGCCTTGAGCACAGGACGTGACCCCCGTCCCCACCAGCGTATGGACACTTATTGGGTCTTGCCTTCCTTTAGGGACCATACCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTGGACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTGGTGAGCTTGGGCAGATGGGCAAGACTTGTAAAGGACTGAAAACCCCAGAGAAAAGGGGACACCGAGCTTGGTCAGGCTTGCTCTCAGTGACATGTGGCCCTCCCCCTCAGATCACAGGGACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTGGTGGCTGGGGCCCTGGCACTGGGGCTCTGGTAAGTGACTGCCATTGGTCCCTCAGCCTCTGATCCTCACACATGCTCTGATGCCCATAGACCACATTCATCTCCACCCTTCATGACTGCCCGCTGAACCTGTCTGATTCTGGAACTACCTCCCCATACCTCCATCCCCCATGCCCCACTTGATTTTAACTGATTCCTCTCCTGACCCTTTACTAATAAACCCTTTGGCGGAGACTGAGATAACCCACATTGTTGGAGAGACAGCTGCCTTTCTATGCCCCAGGCTGAGGCTGAGACGGGGTGGGAAGGATGGATCCCCAAAGCCTGGGTTCTTGGCCTCAGTGATTCCAGTGGACAGGCGTCCAGGTGAGTAGGACATCCAGAAGATTTGGACTTGGAGATGTTTGCCCCTATTTTGAGTGTCCAGATTAAGAGCTGGCTGCCCTAGTCATTTTAAAACATGCTGGGAATCCAAGTTGGGTCTCCTCATTTTAATGATGTCTAGGCTGAGGGCTGGGCCTTTCATTCTTGAGTCCCTGGGCTCAGAAGTGGGTCTCTTTCCCTCCTCTCAGGGTACTGAGGAAGGACCCCAGGTGGACTTCCCTTCAGGGTATTAGTATTAGTACTAATACTCTTCCAGGGTATTAGACTCAGAGCTGGATATTCATCCTTTTTTTTCAAGGTGTCTTGGATCAGTGCTAGGTCCCCTCCTTCATTCTTAATGTGCCTGGGCCCAGAGCTAGGTCCACTCCCGTATCTTCAGTGTGTTGAAGAGGCTCCCTCAGAGCTGGGCTCCTCTACTCATCTTCAGAGTGTTAAGCTTAGAACTGAGTCACCTCCCTCATTCTCAGGGTGTCTGGGCCAAGATCCGGTCTTACTGTCTCTCCTGATTTGCCTCCTGCTTCTTCTAGGAGCTCCAAACCTGTAGAGGACCCAGGAGGGCTTCGGCAGATTCCACCTATAATTCTGTCTTGCTGGTGTGGATAGAAACCAGGCAGGACAGTAGATCCCTATGGTTGGATCTCAGCTGGAAGTTCTGTTTGGAGCCCATTTCTGTGAGACCCTGTATTTCAAATTTGCAGCTGAAAGGTGCTTGTACCTCTGATTTCACCCCAGAGTTGGAGTTCTGCTCAAGGAACGTGTGTAATGTGTACATCTGTGTCCATGTGTGACCATGTGTCTGTGAGGCAGGGAACATGTATTCTCTGCATGCATGTATGTAGGTGCCTGGGGAGTGTGTGTGGGTCCTTGGCTCTTGGCCTTTCCCCTTGCAGGGGTTGTGCAGGTGTGAATAAAGAGAATAAGGAAGTT
|
CTGCTGCTACCCACACTGCCTGATTGGCTGCCTAGCCTCAGAGCAGGCCCTGTACCGAATGCAGCCATATGTCATGTCCTCCCTTGCTGGCCCCTCCTTCCTTGACCTGTGCATGGGAGTGGGACACTAAAACTCTAGCTGGAATTTGGGCCAATTCATCTTCCTTGGATGAAAATAGGAATTGCTCTTTTATTCACTCAAGAAGCACTTCAAAAGTCCACCCGCAGATCTCAGGTGGTTTCTTTTTTTCTTTCTCTTCCTTTTTTTGTTGAGATAGGGTCTCACTTTGTGCCCAGGCTGGATGAAGTTCAGTGGTGTGATCTTGGCTCACTGAAGCCTGCAACTCCTGGGCTCAAGCTATCCCCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGTCTGGTTAATTTTTAAAATTTTTTGTAGAGACAGGGTTTTGCTACGTTGCCCACGCTGGTCTCAAACTCGTGGCATCAAGTGATCCTCCCGCCTCAGTCTTCCAGAGTGCTGAGATTACAGGCATGAGCCACCACACGCGGCCTCAGCCCATTTCATAATACAGATGACCGGTCTGAGTCTAATGGATGATCAAGTTTAAGATTTCCCCTCCCCTCTCAGGAGTGTCTGGCTAAGGCTCCTTTAAACACACACTTTGGGAAGTGGTGGGGAAGTGATGGAGACCCATAGCCTACCCTGACTTTGTGTCTTGATGCCCTTAGTGCGCCCTGACCCACCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGGACATACCCTGCCTCCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTACCGTCCGGCGCAGCATCCAGCCTGGTCCACGGTGAGGCCTGGAGTGCGTCCCAACCCACGGCTGTGGGTCCTGTCTCTGATTTCACGATCCTGGGTGTTCTGTATAGCTTTCCAGTGCTGGCAGGTCACTGAAGACCCAACACTTCCCTGTGGGCCAGGCTTTGTACTGGGTGCTGGGTTGCAGTGGTGACTGAGAGACTGAATGTCTGTCCTGTGGGGCTATAACTATGAGGTAAAGCACATCTGTGGGAAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCTAAAAATAACTCTTAGGAAAAGGAGTGCCTTTCACCTAGAGGCACATTCTCCTACAAACACTCATATACCCAGCTGAGGATAGCAGTGAATTTGTGTCTCAGGAGATGTTAAAGATTGGCTGGTATCAGGACTAGGGAGCAGCAGCATCAGATAATAACTAATATTTACTTAGTGCTGCCTGCCTGTGGGGTACCTGGCTACACTTTTTGCATACATTGTTTTGTTTAGGTAGATTCACCTCTATTTTACAAATGAAGAAACTGAGTCACAGAGAGGCCCAAAGGGTCATTCAATATGTGGTTCACCAAAGATTTGAACCCAGGCTGCCTGATGCCACAGCCTCTCTAAGTAATCACTACTGCCGTCTTACAAACACTAGGTGTAGACTCAGCTCCACCAGACACCCAACATGAGACCTAGACAGCTCCACTAGGCTTTAGGATGAGACTGGGAGCAAGGGGTGCTCTTTGTAGATGGTGGCTGGGAAGGCCCTGCACTTACAAGCTGGGTAACAGTGAGTCATGTTTACCCCCAGGTGGAGCCAGCTGGACTGGAGGAGGTGATCACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCTGGGACTTTCTAGATGCTGGCACCTGGAGCACCTGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTGGTGAGAGACAAAGCCAAAGAAAAGGGCAGAGGCCCCATCCCAAAGCATCTATCAGCTGAACCAGTTCCAAAAGACAGGCAGGTGGCACATGCCCTGCCCACACAGGCACGGCAATTGCTGTCCCAGACTTCAGACTTGTTTGCCTACAGCCCTGTCTTAGCTTAAGTCCTGCCCCTTGGCCTCCACCCCTGCAGTTACAGGCTCCACTTCTACAAGCTTGGAGCTTGCCATGCTCCCTAGGAGCTGGCCATGCCCTATCAGGCTCCTCCTCCTAGGTACCTTGACTTCCAACCTAGGCCTTGGCCTTGAGCACAGGACGTGACCCCCGTCCCCACCAGCGTATGGACACTTATTGGGTCTTGCCTTCCTTTAGGGACCATACCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTGGACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTGGTGAGCTTGGGCAGATGGGCAAGACTTGTAAAGGACTGAAAACCCCAGAGAAAAGGGGACACCGAGCTTGGTCAGGCTTGCTCTCAGTGACATGTGGCCCTCCCCCTCAGATCACAGGGACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTGGTGGCTGGGGCCCTGGCACTGGGGCTCTGGTAAGTGACTGCCATTGGTCCCTCAGCCTCTGATCCTCACACATGCTCTGATGCCCATAGACCACATTCATCTCCACCCTTCATGACTGCCCGCTGAACCTGTCTGATTCTGGAACTACCTCCCCATACCTCCATCCCCCATGCCCCACTTGATTTTAACTGATTCCTCTCCTGACCCTTTACTAATAAACCCTTTGGCGGAGACTGAGATAACCCACATTGTTGGAGAGACAGCTGCCTTTCTATGCCCCAGGCTGAGGCTGAGACGGGGTGGGAAGGATGGATCCCCAAAGCCTGGGTTCTTGGCCTCAGTGATTCCAGTGGACAGGCGTCCAGGTGAGTAGGACATCCAGAAGATTTGGACTTGGAGATGTTTGCCCCTATTTTGAGTGTCCAGATTAAGAGCTGGCTGCCCTAGTCATTTTAAAACATGCTGGGAATCCAAGTTGGGTCTCCTCATTTTAATGATGTCTAGGCTGAGGGCTGGGCCTTTCATTCTTGAGTCCCTGGGCTCAGAAGTGGGTCTCTTTCCCTCCTCTCAGGGTACTGAGGAAGGACCCCAGGTGGACTTCCCTTCAGGGTATTAGTATTAGTACTAATACTCTTCCAGGGTATTAGACTCAGAGCTGGATATTCATCCTTTTTTTTCAAGGTGTCTTGGATCAGTGCTAGGTCCCCTCCTTCATTCTTAATGTGCCTGGGCCCAGAGCTAGGTCCACTCCCGTATCTTCAGTGTGTTGAAGAGGCTCCCTCAGAGCTGGGCTCCTCTACTCATCTTCAGAGTGTTAAGCTTAGAACTGAGTCACCTCCCTCATTCTCAGGGTGTCTGGGCCAAGATCCGGTCTTACTGTCTCTCCTGATTTGCCTCCTGCTTCTTCTAGGAGCTCCAAACCTGTAGAGGACCCAGGAGGGCTTCGGCAGATTCCACCTATAATTCTGTCTTGCTGGTGTGGATAGAAACCAGGCAGGACAGTAGATCCCTATGGTTGGATCTCAGCTGGAAGTTCTGTTTGGAGCCCATTTCTGTGAGACCCTGTATTTCAAATTTGCAGCTGAAAGGTGCTTGTACCTCTGATTTCACCCCAGAGTTGGAGTTCTGCTCAAGGAACGTGTGTAATGTGTACATCTGTGTCCATGTGTGACCATGTGTCTGTGAGGCAGGGAACATGTATTCTCTGCATGCATGTATGTAGGTGCCTGGGGAGTGTGTGTGGGTCCTTGGCTCTTGGCCTTTCCCCTTGCAGGGGTTGTGCAGGTGTGAATAAAGAGAATAAGGAAGTT
|
Task1_train_12768
|
Given this variant in gene IL11RA (interleukin 11 receptor subunit alpha) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Craniosynostosis syndrome
|
AGCCTCAGAGCAGGCCCTGTACCGAATGCAGCCATATGTCATGTCCTCCCTTGCTGGCCCCTCCTTCCTTGACCTGTGCATGGGAGTGGGACACTAAAACTCTAGCTGGAATTTGGGCCAATTCATCTTCCTTGGATGAAAATAGGAATTGCTCTTTTATTCACTCAAGAAGCACTTCAAAAGTCCACCCGCAGATCTCAGGTGGTTTCTTTTTTTCTTTCTCTTCCTTTTTTTGTTGAGATAGGGTCTCACTTTGTGCCCAGGCTGGATGAAGTTCAGTGGTGTGATCTTGGCTCACTGAAGCCTGCAACTCCTGGGCTCAAGCTATCCCCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGTCTGGTTAATTTTTAAAATTTTTTGTAGAGACAGGGTTTTGCTACGTTGCCCACGCTGGTCTCAAACTCGTGGCATCAAGTGATCCTCCCGCCTCAGTCTTCCAGAGTGCTGAGATTACAGGCATGAGCCACCACACGCGGCCTCAGCCCATTTCATAATACAGATGACCGGTCTGAGTCTAATGGATGATCAAGTTTAAGATTTCCCCTCCCCTCTCAGGAGTGTCTGGCTAAGGCTCCTTTAAACACACACTTTGGGAAGTGGTGGGGAAGTGATGGAGACCCATAGCCTACCCTGACTTTGTGTCTTGATGCCCTTAGTGCGCCCTGACCCACCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGGACATACCCTGCCTCCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTACCGTCCGGCGCAGCATCCAGCCTGGTCCACGGTGAGGCCTGGAGTGCGTCCCAACCCACGGCTGTGGGTCCTGTCTCTGATTTCACGATCCTGGGTGTTCTGTATAGCTTTCCAGTGCTGGCAGGTCACTGAAGACCCAACACTTCCCTGTGGGCCAGGCTTTGTACTGGGTGCTGGGTTGCAGTGGTGACTGAGAGACTGAATGTCTGTCCTGTGGGGCTATAACTATGAGGTAAAGCACATCTGTGGGAAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCTAAAAATAACTCTTAGGAAAAGGAGTGCCTTTCACCTAGAGGCACATTCTCCTACAAACACTCATATACCCAGCTGAGGATAGCAGTGAATTTGTGTCTCAGGAGATGTTAAAGATTGGCTGGTATCAGGACTAGGGAGCAGCAGCATCAGATAATAACTAATATTTACTTAGTGCTGCCTGCCTGTGGGGTACCTGGCTACACTTTTTGCATACATTGTTTTGTTTAGGTAGATTCACCTCTATTTTACAAATGAAGAAACTGAGTCACAGAGAGGCCCAAAGGGTCATTCAATATGTGGTTCACCAAAGATTTGAACCCAGGCTGCCTGATGCCACAGCCTCTCTAAGTAATCACTACTGCCGTCTTACAAACACTAGGTGTAGACTCAGCTCCACCAGACACCCAACATGAGACCTAGACAGCTCCACTAGGCTTTAGGATGAGACTGGGAGCAAGGGGTGCTCTTTGTAGATGGTGGCTGGGAAGGCCCTGCACTTACAAGCTGGGTAACAGTGAGTCATGTTTACCCCCAGGTGGAGCCAGCTGGACTGGAGGAGGTGATCACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTGGAGCACCTGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTGGTGAGAGACAAAGCCAAAGAAAAGGGCAGAGGCCCCATCCCAAAGCATCTATCAGCTGAACCAGTTCCAAAAGACAGGCAGGTGGCACATGCCCTGCCCACACAGGCACGGCAATTGCTGTCCCAGACTTCAGACTTGTTTGCCTACAGCCCTGTCTTAGCTTAAGTCCTGCCCCTTGGCCTCCACCCCTGCAGTTACAGGCTCCACTTCTACAAGCTTGGAGCTTGCCATGCTCCCTAGGAGCTGGCCATGCCCTATCAGGCTCCTCCTCCTAGGTACCTTGACTTCCAACCTAGGCCTTGGCCTTGAGCACAGGACGTGACCCCCGTCCCCACCAGCGTATGGACACTTATTGGGTCTTGCCTTCCTTTAGGGACCATACCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTGGACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTGGTGAGCTTGGGCAGATGGGCAAGACTTGTAAAGGACTGAAAACCCCAGAGAAAAGGGGACACCGAGCTTGGTCAGGCTTGCTCTCAGTGACATGTGGCCCTCCCCCTCAGATCACAGGGACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTGGTGGCTGGGGCCCTGGCACTGGGGCTCTGGTAAGTGACTGCCATTGGTCCCTCAGCCTCTGATCCTCACACATGCTCTGATGCCCATAGACCACATTCATCTCCACCCTTCATGACTGCCCGCTGAACCTGTCTGATTCTGGAACTACCTCCCCATACCTCCATCCCCCATGCCCCACTTGATTTTAACTGATTCCTCTCCTGACCCTTTACTAATAAACCCTTTGGCGGAGACTGAGATAACCCACATTGTTGGAGAGACAGCTGCCTTTCTATGCCCCAGGCTGAGGCTGAGACGGGGTGGGAAGGATGGATCCCCAAAGCCTGGGTTCTTGGCCTCAGTGATTCCAGTGGACAGGCGTCCAGGTGAGTAGGACATCCAGAAGATTTGGACTTGGAGATGTTTGCCCCTATTTTGAGTGTCCAGATTAAGAGCTGGCTGCCCTAGTCATTTTAAAACATGCTGGGAATCCAAGTTGGGTCTCCTCATTTTAATGATGTCTAGGCTGAGGGCTGGGCCTTTCATTCTTGAGTCCCTGGGCTCAGAAGTGGGTCTCTTTCCCTCCTCTCAGGGTACTGAGGAAGGACCCCAGGTGGACTTCCCTTCAGGGTATTAGTATTAGTACTAATACTCTTCCAGGGTATTAGACTCAGAGCTGGATATTCATCCTTTTTTTTCAAGGTGTCTTGGATCAGTGCTAGGTCCCCTCCTTCATTCTTAATGTGCCTGGGCCCAGAGCTAGGTCCACTCCCGTATCTTCAGTGTGTTGAAGAGGCTCCCTCAGAGCTGGGCTCCTCTACTCATCTTCAGAGTGTTAAGCTTAGAACTGAGTCACCTCCCTCATTCTCAGGGTGTCTGGGCCAAGATCCGGTCTTACTGTCTCTCCTGATTTGCCTCCTGCTTCTTCTAGGAGCTCCAAACCTGTAGAGGACCCAGGAGGGCTTCGGCAGATTCCACCTATAATTCTGTCTTGCTGGTGTGGATAGAAACCAGGCAGGACAGTAGATCCCTATGGTTGGATCTCAGCTGGAAGTTCTGTTTGGAGCCCATTTCTGTGAGACCCTGTATTTCAAATTTGCAGCTGAAAGGTGCTTGTACCTCTGATTTCACCCCAGAGTTGGAGTTCTGCTCAAGGAACGTGTGTAATGTGTACATCTGTGTCCATGTGTGACCATGTGTCTGTGAGGCAGGGAACATGTATTCTCTGCATGCATGTATGTAGGTGCCTGGGGAGTGTGTGTGGGTCCTTGGCTCTTGGCCTTTCCCCTTGCAGGGGTTGTGCAGGTGTGAATAAAGAGAATAAGGAAGTTCTTGGAGATTATACTCAGAAATTATTATCCAAT
|
AGCCTCAGAGCAGGCCCTGTACCGAATGCAGCCATATGTCATGTCCTCCCTTGCTGGCCCCTCCTTCCTTGACCTGTGCATGGGAGTGGGACACTAAAACTCTAGCTGGAATTTGGGCCAATTCATCTTCCTTGGATGAAAATAGGAATTGCTCTTTTATTCACTCAAGAAGCACTTCAAAAGTCCACCCGCAGATCTCAGGTGGTTTCTTTTTTTCTTTCTCTTCCTTTTTTTGTTGAGATAGGGTCTCACTTTGTGCCCAGGCTGGATGAAGTTCAGTGGTGTGATCTTGGCTCACTGAAGCCTGCAACTCCTGGGCTCAAGCTATCCCCTCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGTCTGGTTAATTTTTAAAATTTTTTGTAGAGACAGGGTTTTGCTACGTTGCCCACGCTGGTCTCAAACTCGTGGCATCAAGTGATCCTCCCGCCTCAGTCTTCCAGAGTGCTGAGATTACAGGCATGAGCCACCACACGCGGCCTCAGCCCATTTCATAATACAGATGACCGGTCTGAGTCTAATGGATGATCAAGTTTAAGATTTCCCCTCCCCTCTCAGGAGTGTCTGGCTAAGGCTCCTTTAAACACACACTTTGGGAAGTGGTGGGGAAGTGATGGAGACCCATAGCCTACCCTGACTTTGTGTCTTGATGCCCTTAGTGCGCCCTGACCCACCCCAGGGCCTGCGGGTAGAGTCAGTACCAGGTTACCCCCGACGCCTGCGAGCCAGCTGGACATACCCTGCCTCCTGGCCGTGCCAGCCCCACTTCCTGCTCAAGTTCCGTTTGCAGTACCGTCCGGCGCAGCATCCAGCCTGGTCCACGGTGAGGCCTGGAGTGCGTCCCAACCCACGGCTGTGGGTCCTGTCTCTGATTTCACGATCCTGGGTGTTCTGTATAGCTTTCCAGTGCTGGCAGGTCACTGAAGACCCAACACTTCCCTGTGGGCCAGGCTTTGTACTGGGTGCTGGGTTGCAGTGGTGACTGAGAGACTGAATGTCTGTCCTGTGGGGCTATAACTATGAGGTAAAGCACATCTGTGGGAAGATAGCAATGGCTTTTAAAAAAATAACTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTCGGCTAACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTTCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCGCCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCATGACCTCACGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACGGCGCCCGGCCTAAAAATAACTCTTAGGAAAAGGAGTGCCTTTCACCTAGAGGCACATTCTCCTACAAACACTCATATACCCAGCTGAGGATAGCAGTGAATTTGTGTCTCAGGAGATGTTAAAGATTGGCTGGTATCAGGACTAGGGAGCAGCAGCATCAGATAATAACTAATATTTACTTAGTGCTGCCTGCCTGTGGGGTACCTGGCTACACTTTTTGCATACATTGTTTTGTTTAGGTAGATTCACCTCTATTTTACAAATGAAGAAACTGAGTCACAGAGAGGCCCAAAGGGTCATTCAATATGTGGTTCACCAAAGATTTGAACCCAGGCTGCCTGATGCCACAGCCTCTCTAAGTAATCACTACTGCCGTCTTACAAACACTAGGTGTAGACTCAGCTCCACCAGACACCCAACATGAGACCTAGACAGCTCCACTAGGCTTTAGGATGAGACTGGGAGCAAGGGGTGCTCTTTGTAGATGGTGGCTGGGAAGGCCCTGCACTTACAAGCTGGGTAACAGTGAGTCATGTTTACCCCCAGGTGGAGCCAGCTGGACTGGAGGAGGTGATCACAGATGCTGTGGCTGGGCTGCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTGGAGCACCCGGAGCCCGGAGGCCTGGGGAACTCCGAGCACTGGTGAGAGACAAAGCCAAAGAAAAGGGCAGAGGCCCCATCCCAAAGCATCTATCAGCTGAACCAGTTCCAAAAGACAGGCAGGTGGCACATGCCCTGCCCACACAGGCACGGCAATTGCTGTCCCAGACTTCAGACTTGTTTGCCTACAGCCCTGTCTTAGCTTAAGTCCTGCCCCTTGGCCTCCACCCCTGCAGTTACAGGCTCCACTTCTACAAGCTTGGAGCTTGCCATGCTCCCTAGGAGCTGGCCATGCCCTATCAGGCTCCTCCTCCTAGGTACCTTGACTTCCAACCTAGGCCTTGGCCTTGAGCACAGGACGTGACCCCCGTCCCCACCAGCGTATGGACACTTATTGGGTCTTGCCTTCCTTTAGGGACCATACCAAAGGAGATACCAGCATGGGGCCAGCTACACACGCAGCCAGAGGTGGAGCCTCAGGTGGACAGCCCTGCTCCTCCAAGGCCCTCCCTCCAACCACACCCTCGGCTACTTGGTGAGCTTGGGCAGATGGGCAAGACTTGTAAAGGACTGAAAACCCCAGAGAAAAGGGGACACCGAGCTTGGTCAGGCTTGCTCTCAGTGACATGTGGCCCTCCCCCTCAGATCACAGGGACTCTGTGGAGCAGGTAGCTGTGCTGGCGTCTTTGGGAATCCTTTCTTTCCTGGGACTGGTGGCTGGGGCCCTGGCACTGGGGCTCTGGTAAGTGACTGCCATTGGTCCCTCAGCCTCTGATCCTCACACATGCTCTGATGCCCATAGACCACATTCATCTCCACCCTTCATGACTGCCCGCTGAACCTGTCTGATTCTGGAACTACCTCCCCATACCTCCATCCCCCATGCCCCACTTGATTTTAACTGATTCCTCTCCTGACCCTTTACTAATAAACCCTTTGGCGGAGACTGAGATAACCCACATTGTTGGAGAGACAGCTGCCTTTCTATGCCCCAGGCTGAGGCTGAGACGGGGTGGGAAGGATGGATCCCCAAAGCCTGGGTTCTTGGCCTCAGTGATTCCAGTGGACAGGCGTCCAGGTGAGTAGGACATCCAGAAGATTTGGACTTGGAGATGTTTGCCCCTATTTTGAGTGTCCAGATTAAGAGCTGGCTGCCCTAGTCATTTTAAAACATGCTGGGAATCCAAGTTGGGTCTCCTCATTTTAATGATGTCTAGGCTGAGGGCTGGGCCTTTCATTCTTGAGTCCCTGGGCTCAGAAGTGGGTCTCTTTCCCTCCTCTCAGGGTACTGAGGAAGGACCCCAGGTGGACTTCCCTTCAGGGTATTAGTATTAGTACTAATACTCTTCCAGGGTATTAGACTCAGAGCTGGATATTCATCCTTTTTTTTCAAGGTGTCTTGGATCAGTGCTAGGTCCCCTCCTTCATTCTTAATGTGCCTGGGCCCAGAGCTAGGTCCACTCCCGTATCTTCAGTGTGTTGAAGAGGCTCCCTCAGAGCTGGGCTCCTCTACTCATCTTCAGAGTGTTAAGCTTAGAACTGAGTCACCTCCCTCATTCTCAGGGTGTCTGGGCCAAGATCCGGTCTTACTGTCTCTCCTGATTTGCCTCCTGCTTCTTCTAGGAGCTCCAAACCTGTAGAGGACCCAGGAGGGCTTCGGCAGATTCCACCTATAATTCTGTCTTGCTGGTGTGGATAGAAACCAGGCAGGACAGTAGATCCCTATGGTTGGATCTCAGCTGGAAGTTCTGTTTGGAGCCCATTTCTGTGAGACCCTGTATTTCAAATTTGCAGCTGAAAGGTGCTTGTACCTCTGATTTCACCCCAGAGTTGGAGTTCTGCTCAAGGAACGTGTGTAATGTGTACATCTGTGTCCATGTGTGACCATGTGTCTGTGAGGCAGGGAACATGTATTCTCTGCATGCATGTATGTAGGTGCCTGGGGAGTGTGTGTGGGTCCTTGGCTCTTGGCCTTTCCCCTTGCAGGGGTTGTGCAGGTGTGAATAAAGAGAATAAGGAAGTTCTTGGAGATTATACTCAGAAATTATTATCCAAT
|
Task1_train_12769
|
A mutation on Chromosome 9 affecting VCP (valosin containing protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Global developmental delay
|
CCTGGATTTCATCCCAGGCCTCCCATTACTGCAGTTTATTGGTCTCCTTGCCCTTCCAATCCAACCTGAGGTAAGATGCTAGGCCATGCTTCCTAAAATTGAGTCACTGCTCTGCTTAAAAACTTGTCAATGCACTCTGGAAAAGGGAAAACTGTAGGGACAGAAATCACATCAGTGATGGGGCTTAAGGAGGGGAGATGTTGACTGAAGTGGCTAAGGAAACTTTTTGAGATAGTAGAAATTTTAAGTCTCAACTGTGGTAGTAGTTATAGAACTTACACACACTTGTCATAAAGCATGGAAATGGTATATAGAAAGAGTGAATTTTATTGTATTTATATCATACCTTAATAAACCTTAATACTTTAAAAGGAAATGCCAATGGCTTTCAGTGCTTACCACATTTGGATTACATCCTACCTAGCGGTCTCACTTCCAGTGACATATATACTCTTAAATCTACCCAGGGTTTCCCAATGATTGCAATCCTACTACTAGAGCACATTATTTGGGCTGCTTATTCCCTTTATTCAAATTCTACTCTCTTCACAGCCCAGCTCAAAACCTATCTCTTCCATTGAGAGGCCAATTTCTGTGACTTATGTGACTACCTCCTAGGATTAGTTCATCAGTAGTTGTTAAGCTTTTATGGGAGAGAGAAGGGATGTCACAGACCCTTCAAAAGGGAAAGAAAGCCATTTATTTGCTCATTAAGTCCCATGTTTGGAACTTAATGAATTAATTAAGGGTAACACAAGACATAGTGGAAAACAAGTGAGATGACAGAGATCTTACCTTTATGGAACTTACAAACACATGAATTTGCCTTTTCATTTTGGGAGGTCTGTGGACCCTATCCCTTCCCCAACCATCAGGGATAAGTATATGAGTCTCATCTCAGCTCAAAACCTTGCTCTGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCACATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCACGTTTCTACTAAAAAAAAAATACAAAAAACTAGCCGGACATGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGACTTCGTCTCAAAAAAAAAACAAAAAACAAAAAACAAAAAAAACCTTGCTGTGTTTGCTGCACTCTCATACTTTGATTTCCCTCATGGAGCTTGGTTCAGACTGAGAATGGAGCCTGACCATCTCTTCTCGGCCTTATTCCAAATTGAATGGATTCACCTCAGCATTCTTTATCTTTGATGCCCTATTAAAATTCTTCTCAGTTAGATGATCTTTCCAACAGCTTCTACTCTCAACTCCAGGGCATGGTGGTGGCTGCTGCCTGGCTCTCCATGATTGGCACATCTGGGGAAAGGATGCAGACTCACCATGGCTGATGGGTTTGTCTGCCTCTCTCGTTCTCGCCTAATCTCACTCTCGATGGATTCACGGATGGCCAGCTTGCAAGCACGCTGGCAAATCTCTGTCAGGTCAGCTCCAGAGAAGCCATTAGTCATTTTAGCCAGGAACTCCAAGTCCACATCCTAAAAGCAGCAGCAGAGGTACCTTAGCATTTAGCCTCTCCTCTCGAGATACGCAGATCTTTGGGCTACCCGAGCACTCCCAACTACAGTTTGCCCCTTCTTTGGCCACCCCATTTTATTCCTGATTCTAGATTATCTTGATATCCTCAAAAATTCTACCTTCCCTTTAGACCAACCCTAACCCCAGTGGAATCTTGTCCAGAAACTAAAGAGCACTCCGTACCAGCCTGAGGACTCATGCAAGTCTCCCACAGCCCATGATCTTGCACCTGCCTTGGCAACTGGGGACTTGCGCAGGTTAGCCTTGAGGATGGCAACACGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCTACAAAAAATAAAAAATTAGCCAGATGTGGTGACGCATGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGAATTGCTTAAGCCCAGGTTTCAAGGTTACAGTGAGCCATGACTGTACCACTGCCCTCCAACCTGGGCAACAGAGCCAGACCCTGTCTCAAGAGAGAGAGAGAGAAAAAAAAAATAACACTAGGTCTCTCAGACCTCAGAAAGAAAATCAAGTGACTTACTGTGCAGTTGAGCAGCCAGCACTAAGAATATTTCAACCCTCTTAAAGAAAAACAGCCTCTATTCCTTGCCCTCAGGCAAATCAATACATAGTTCAGCCTATTGTAGCTCACCTTGTCAAAGATTTCTCTGACATTGGCCTCAGACTCCCCAAACCACATGGTGAGCAGCTCAGGACCCTTGATGGAGATGAAGTTGGCCTGGCATTCATTAGCAATGGCTTTGGCCAACAAAGTTTTCCCACAGCCAGGAGGTCCATAGAACAGAACTCCCTTGGAAGGTGTCATGCCAAACTTCAGGAATTTGTCTGGGTGCTCCACAGGATACTAGGAGGAAAAGGAAAGAGGGTTCAAGGCTACCTCCACATTTTGAAAGAAACCTAACTAAACAGAAGCATCCCCTCCATTATTTCATGGTGTACCCAATGGTATCAGATCCAGGTTCTCTAGAAGAAGACTCCTTAGTGCCTCAAACCTAAGAACAGTAGGTTCCTAAGTCGTGCTCTCACAACTCTTGCAGCAAATGTGTTGACACCCTGAGATCACCCAGATCAATTACAATGTACTGAGACAGTGACTCACCCTGGACCAAGTTGCCCTACCTGGACCAGCTCCTGTAGCTCACGTTTGACATCCTCTAGGCCCCCGATGTCTTCCCAGGTTACCTGTGGCACCTCTACCACGGTTTCCCGCAGTGCTGATGGGTTACTCTGGCTCAAGGCCCACTAGAAAAGGAGGGAAAACTGGGGATGAGACTTATCAAGGGAGGGGTCAAAGCACGTATGTGTGTACCTGAGGCACGGGTGTGGTCCTTACCCGGAAGTCATCCATAGTAACTGCTAGAGAGTTCATGACCTCGGCATCAATGGTCTCATCCTCTAGGTCAATGAGATCCATCTTCTTGCGGATGGCTTGCAGAGCAGCCTCTGAGCACAGGGCTGCTAAGTCAGCACCCACATGCCCGTGAGTCTCATTGGCTACCTGCAGAGAAAGATCTACTTACTATGCTGCCTCAAAGACCCAGCTGCTGCAGGAGGCTCAGAGACAATAGAATCCTTCCCCTGACTGCTATCCCTGGGTCCTCTCATTTCCTTGAATATATACTATCAATACCTTTATGGGCTGGGTTTTAAGTACTTAATTCTGGACTTGGGACCTAGAAATAAGGCTGCTCCAACAATTCTGATTTACTCTAAATGCAGCGTCAACTATGAAAAATGCCAACTCCCATTTCCTGGATTCAATCTCAGATTACTTCCTTTCCCCTGTCCAGAAATCAAAACCCATCTCCTCACATCTTAACCTTATGTCTCTAGCCAGTTCCCAGCAACTGCCTAGAGACACTGTAACGCCTGGTCAGCCATCATCATCACTTCACCTGTTCCAGGTCCACATCATCTGCCAGCTTCATGTTCTTGGTATGGATCTGAAGAATCTCTAAGCGTCCTGTAGCATCAGGAATTCCAATATCT
|
CCTGGATTTCATCCCAGGCCTCCCATTACTGCAGTTTATTGGTCTCCTTGCCCTTCCAATCCAACCTGAGGTAAGATGCTAGGCCATGCTTCCTAAAATTGAGTCACTGCTCTGCTTAAAAACTTGTCAATGCACTCTGGAAAAGGGAAAACTGTAGGGACAGAAATCACATCAGTGATGGGGCTTAAGGAGGGGAGATGTTGACTGAAGTGGCTAAGGAAACTTTTTGAGATAGTAGAAATTTTAAGTCTCAACTGTGGTAGTAGTTATAGAACTTACACACACTTGTCATAAAGCATGGAAATGGTATATAGAAAGAGTGAATTTTATTGTATTTATATCATACCTTAATAAACCTTAATACTTTAAAAGGAAATGCCAATGGCTTTCAGTGCTTACCACATTTGGATTACATCCTACCTAGCGGTCTCACTTCCAGTGACATATATACTCTTAAATCTACCCAGGGTTTCCCAATGATTGCAATCCTACTACTAGAGCACATTATTTGGGCTGCTTATTCCCTTTATTCAAATTCTACTCTCTTCACAGCCCAGCTCAAAACCTATCTCTTCCATTGAGAGGCCAATTTCTGTGACTTATGTGACTACCTCCTAGGATTAGTTCATCAGTAGTTGTTAAGCTTTTATGGGAGAGAGAAGGGATGTCACAGACCCTTCAAAAGGGAAAGAAAGCCATTTATTTGCTCATTAAGTCCCATGTTTGGAACTTAATGAATTAATTAAGGGTAACACAAGACATAGTGGAAAACAAGTGAGATGACAGAGATCTTACCTTTATGGAACTTACAAACACATGAATTTGCCTTTTCATTTTGGGAGGTCTGTGGACCCTATCCCTTCCCCAACCATCAGGGATAAGTATATGAGTCTCATCTCAGCTCAAAACCTTGCTCTGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCACATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCACGTTTCTACTAAAAAAAAAATACAAAAAACTAGCCGGACATGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGACTTCGTCTCAAAAAAAAAACAAAAAACAAAAAACAAAAAAAACCTTGCTGTGTTTGCTGCACTCTCATACTTTGATTTCCCTCATGGAGCTTGGTTCAGACTGAGAATGGAGCCTGACCATCTCTTCTCGGCCTTATTCCAAATTGAATGGATTCACCTCAGCATTCTTTATCTTTGATGCCCTATTAAAATTCTTCTCAGTTAGATGATCTTTCCAACAGCTTCTACTCTCAACTCCAGGGCATGGTGGTGGCTGCTGCCTGGCTCTCCATGATTGGCACATCTGGGGAAAGGATGCAGACTCACCATGGCTGATGGGTTTGTCTGCCTCTCTCGTTCTCGCCTAATCTCACTCTCGATGGATTCACGGATGGCCAGCTTGCAAGCACGCTGGCAAATCTCTGTCAGGTCAGCTCCAGAGAAGCCATTAGTCATTTTAGCCAGGAACTCCAAGTCCACATCCTAAAAGCAGCAGCAGAGGTACCTTAGCATTTAGCCTCTCCTCTCGAGATACGCAGATCTTTGGGCTACCCGAGCACTCCCAACTACAGTTTGCCCCTTCTTTGGCCACCCCATTTTATTCCTGATTCTAGATTATCTTGATATCCTCAAAAATTCTACCTTCCCTTTAGACCAACCCTAACCCCAGTGGAATCTTGTCCAGAAACTAAAGAGCACTCCGTACCAGCCTGAGGACTCATGCAAGTCTCCCACAGCCCATGATCTTGCACCTGCCTTGGCAACTGGGGACTTGCGCAGGTTAGCCTTGAGGATGGCAACACGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCGGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCTACAAAAAATAAAAAATTAGCCAGATGTGGTGACGCATGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGAATTGCTTAAGCCCAGGTTTCAAGGTTACAGTGAGCCATGACTGTACCACTGCCCTCCAACCTGGGCAACAGAGCCAGACCCTGTCTCAAGAGAGAGAGAGAGAAAAAAAAAATAACACTAGGTCTCTCAGACCTCAGAAAGAAAATCAAGTGACTTACTGTGCAGTTGAGCAGCCAGCACTAAGAATATTTCAACCCTCTTAAAGAAAAACAGCCTCTATTCCTTGCCCTCAGGCAAATCAATACATAGTTCAGCCTATTGTAGCTCACCTTGTCAAAGATTTCTCTGACATTGGCCTCAGACTCCCCAAACCACATGGTGAGCAGCTCAGGACCCTTGATGGAGATGAAGTTGGCCTGGCATTCATTAGCAATGGCTTTGGCCAACAAAGTTTTCCCACAGCCAGGAGGTCCATAGAACAGAACTCCCTTGGAAGGTGTCATGCCAAACTTCAGGAATTTGTCTGGGTGCTCCACAGGATACTAGGAGGAAAAGGAAAGAGGGTTCAAGGCTACCTCCACATTTTGAAAGAAACCTAACTAAACAGAAGCATCCCCTCCATTATTTCATGGTGTACCCAATGGTATCAGATCCAGGTTCTCTAGAAGAAGACTCCTTAGTGCCTCAAACCTAAGAACAGTAGGTTCCTAAGTCGTGCTCTCACAACTCTTGCAGCAAATGTGTTGACACCCTGAGATCACCCAGATCAATTACAATGTACTGAGACAGTGACTCACCCTGGACCAAGTTGCCCTACCTGGACCAGCTCCTGTAGCTCACGTTTGACATCCTCTAGGCCCCCGATGTCTTCCCAGGTTACCTGTGGCACCTCTACCACGGTTTCCCGCAGTGCTGATGGGTTACTCTGGCTCAAGGCCCACTAGAAAAGGAGGGAAAACTGGGGATGAGACTTATCAAGGGAGGGGTCAAAGCACGTATGTGTGTACCTGAGGCACGGGTGTGGTCCTTACCCGGAAGTCATCCATAGTAACTGCTAGAGAGTTCATGACCTCGGCATCAATGGTCTCATCCTCTAGGTCAATGAGATCCATCTTCTTGCGGATGGCTTGCAGAGCAGCCTCTGAGCACAGGGCTGCTAAGTCAGCACCCACATGCCCGTGAGTCTCATTGGCTACCTGCAGAGAAAGATCTACTTACTATGCTGCCTCAAAGACCCAGCTGCTGCAGGAGGCTCAGAGACAATAGAATCCTTCCCCTGACTGCTATCCCTGGGTCCTCTCATTTCCTTGAATATATACTATCAATACCTTTATGGGCTGGGTTTTAAGTACTTAATTCTGGACTTGGGACCTAGAAATAAGGCTGCTCCAACAATTCTGATTTACTCTAAATGCAGCGTCAACTATGAAAAATGCCAACTCCCATTTCCTGGATTCAATCTCAGATTACTTCCTTTCCCCTGTCCAGAAATCAAAACCCATCTCCTCACATCTTAACCTTATGTCTCTAGCCAGTTCCCAGCAACTGCCTAGAGACACTGTAACGCCTGGTCAGCCATCATCATCACTTCACCTGTTCCAGGTCCACATCATCTGCCAGCTTCATGTTCTTGGTATGGATCTGAAGAATCTCTAAGCGTCCTGTAGCATCAGGAATTCCAATATCT
|
Task1_train_12770
|
An alteration has been detected in VCP (valosin containing protein) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
GAGTCACTGCTCTGCTTAAAAACTTGTCAATGCACTCTGGAAAAGGGAAAACTGTAGGGACAGAAATCACATCAGTGATGGGGCTTAAGGAGGGGAGATGTTGACTGAAGTGGCTAAGGAAACTTTTTGAGATAGTAGAAATTTTAAGTCTCAACTGTGGTAGTAGTTATAGAACTTACACACACTTGTCATAAAGCATGGAAATGGTATATAGAAAGAGTGAATTTTATTGTATTTATATCATACCTTAATAAACCTTAATACTTTAAAAGGAAATGCCAATGGCTTTCAGTGCTTACCACATTTGGATTACATCCTACCTAGCGGTCTCACTTCCAGTGACATATATACTCTTAAATCTACCCAGGGTTTCCCAATGATTGCAATCCTACTACTAGAGCACATTATTTGGGCTGCTTATTCCCTTTATTCAAATTCTACTCTCTTCACAGCCCAGCTCAAAACCTATCTCTTCCATTGAGAGGCCAATTTCTGTGACTTATGTGACTACCTCCTAGGATTAGTTCATCAGTAGTTGTTAAGCTTTTATGGGAGAGAGAAGGGATGTCACAGACCCTTCAAAAGGGAAAGAAAGCCATTTATTTGCTCATTAAGTCCCATGTTTGGAACTTAATGAATTAATTAAGGGTAACACAAGACATAGTGGAAAACAAGTGAGATGACAGAGATCTTACCTTTATGGAACTTACAAACACATGAATTTGCCTTTTCATTTTGGGAGGTCTGTGGACCCTATCCCTTCCCCAACCATCAGGGATAAGTATATGAGTCTCATCTCAGCTCAAAACCTTGCTCTGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCACATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCACGTTTCTACTAAAAAAAAAATACAAAAAACTAGCCGGACATGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGACTTCGTCTCAAAAAAAAAACAAAAAACAAAAAACAAAAAAAACCTTGCTGTGTTTGCTGCACTCTCATACTTTGATTTCCCTCATGGAGCTTGGTTCAGACTGAGAATGGAGCCTGACCATCTCTTCTCGGCCTTATTCCAAATTGAATGGATTCACCTCAGCATTCTTTATCTTTGATGCCCTATTAAAATTCTTCTCAGTTAGATGATCTTTCCAACAGCTTCTACTCTCAACTCCAGGGCATGGTGGTGGCTGCTGCCTGGCTCTCCATGATTGGCACATCTGGGGAAAGGATGCAGACTCACCATGGCTGATGGGTTTGTCTGCCTCTCTCGTTCTCGCCTAATCTCACTCTCGATGGATTCACGGATGGCCAGCTTGCAAGCACGCTGGCAAATCTCTGTCAGGTCAGCTCCAGAGAAGCCATTAGTCATTTTAGCCAGGAACTCCAAGTCCACATCCTAAAAGCAGCAGCAGAGGTACCTTAGCATTTAGCCTCTCCTCTCGAGATACGCAGATCTTTGGGCTACCCGAGCACTCCCAACTACAGTTTGCCCCTTCTTTGGCCACCCCATTTTATTCCTGATTCTAGATTATCTTGATATCCTCAAAAATTCTACCTTCCCTTTAGACCAACCCTAACCCCAGTGGAATCTTGTCCAGAAACTAAAGAGCACTCCGTACCAGCCTGAGGACTCATGCAAGTCTCCCACAGCCCATGATCTTGCACCTGCCTTGGCAACTGGGGACTTGCGCAGGTTAGCCTTGAGGATGGCAACACGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCTACAAAAAATAAAAAATTAGCCAGATGTGGTGACGCATGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGAATTGCTTAAGCCCAGGTTTCAAGGTTACAGTGAGCCATGACTGTACCACTGCCCTCCAACCTGGGCAACAGAGCCAGACCCTGTCTCAAGAGAGAGAGAGAGAAAAAAAAAATAACACTAGGTCTCTCAGACCTCAGAAAGAAAATCAAGTGACTTACTGTGCAGTTGAGCAGCCAGCACTAAGAATATTTCAACCCTCTTAAAGAAAAACAGCCTCTATTCCTTGCCCTCAGGCAAATCAATACATAGTTCAGCCTATTGTAGCTCACCTTGTCAAAGATTTCTCTGACATTGGCCTCAGACTCCCCAAACCACATGGTGAGCAGCTCAGGACCCTTGATGGAGATGAAGTTGGCCTGGCATTCATTAGCAATGGCTTTGGCCAACAAAGTTTTCCCACAGCCAGGAGGTCCATAGAACAGAACTCCCTTGGAAGGTGTCATGCCAAACTTCAGGAATTTGTCTGGGTGCTCCACAGGATACTAGGAGGAAAAGGAAAGAGGGTTCAAGGCTACCTCCACATTTTGAAAGAAACCTAACTAAACAGAAGCATCCCCTCCATTATTTCATGGTGTACCCAATGGTATCAGATCCAGGTTCTCTAGAAGAAGACTCCTTAGTGCCTCAAACCTAAGAACAGTAGGTTCCTAAGTCGTGCTCTCACAACTCTTGCAGCAAATGTGTTGACACCCTGAGATCACCCAGATCAATTACAATGTACTGAGACAGTGACTCACCCTGGACCAAGTTGCCCTACCTGGACCAGCTCCTGTAGCTCACGTTTGACATCCTCTAGGCCCCCGATGTCTTCCCAGGTTACCTGTGGCACCTCTACCACGGTTTCCCGCAGTGCTGATGGGTTACTCTGGCTCAAGGCCCACTAGAAAAGGAGGGAAAACTGGGGATGAGACTTATCAAGGGAGGGGTCAAAGCACGTATGTGTGTACCTGAGGCACGGGTGTGGTCCTTACCCGGAAGTCATCCATAGTAACTGCTAGAGAGTTCATGACCTCGGCATCAATGGTCTCATCCTCTAGGTCAATGAGATCCATCTTCTTGCGGATGGCTTGCAGAGCAGCCTCTGAGCACAGGGCTGCTAAGTCAGCACCCACATGCCCGTGAGTCTCATTGGCTACCTGCAGAGAAAGATCTACTTACTATGCTGCCTCAAAGACCCAGCTGCTGCAGGAGGCTCAGAGACAATAGAATCCTTCCCCTGACTGCTATCCCTGGGTCCTCTCATTTCCTTGAATATATACTATCAATACCTTTATGGGCTGGGTTTTAAGTACTTAATTCTGGACTTGGGACCTAGAAATAAGGCTGCTCCAACAATTCTGATTTACTCTAAATGCAGCGTCAACTATGAAAAATGCCAACTCCCATTTCCTGGATTCAATCTCAGATTACTTCCTTTCCCCTGTCCAGAAATCAAAACCCATCTCCTCACATCTTAACCTTATGTCTCTAGCCAGTTCCCAGCAACTGCCTAGAGACACTGTAACGCCTGGTCAGCCATCATCATCACTTCACCTGTTCCAGGTCCACATCATCTGCCAGCTTCATGTTCTTGGTATGGATCTGAAGAATCTCTAAGCGTCCTGTAGCATCAGGAATTCCAATATCTACCTCCCTGTCAAAGCGACCTGTGGGACAGTACACAAACATAAACAGGGCTCATCTCTAGTCCAGAGGTAAGAGACAGGCCTAGGGTGACCAACCATCTC
|
GAGTCACTGCTCTGCTTAAAAACTTGTCAATGCACTCTGGAAAAGGGAAAACTGTAGGGACAGAAATCACATCAGTGATGGGGCTTAAGGAGGGGAGATGTTGACTGAAGTGGCTAAGGAAACTTTTTGAGATAGTAGAAATTTTAAGTCTCAACTGTGGTAGTAGTTATAGAACTTACACACACTTGTCATAAAGCATGGAAATGGTATATAGAAAGAGTGAATTTTATTGTATTTATATCATACCTTAATAAACCTTAATACTTTAAAAGGAAATGCCAATGGCTTTCAGTGCTTACCACATTTGGATTACATCCTACCTAGCGGTCTCACTTCCAGTGACATATATACTCTTAAATCTACCCAGGGTTTCCCAATGATTGCAATCCTACTACTAGAGCACATTATTTGGGCTGCTTATTCCCTTTATTCAAATTCTACTCTCTTCACAGCCCAGCTCAAAACCTATCTCTTCCATTGAGAGGCCAATTTCTGTGACTTATGTGACTACCTCCTAGGATTAGTTCATCAGTAGTTGTTAAGCTTTTATGGGAGAGAGAAGGGATGTCACAGACCCTTCAAAAGGGAAAGAAAGCCATTTATTTGCTCATTAAGTCCCATGTTTGGAACTTAATGAATTAATTAAGGGTAACACAAGACATAGTGGAAAACAAGTGAGATGACAGAGATCTTACCTTTATGGAACTTACAAACACATGAATTTGCCTTTTCATTTTGGGAGGTCTGTGGACCCTATCCCTTCCCCAACCATCAGGGATAAGTATATGAGTCTCATCTCAGCTCAAAACCTTGCTCTGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCACATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCACGTTTCTACTAAAAAAAAAATACAAAAAACTAGCCGGACATGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGACTTCGTCTCAAAAAAAAAACAAAAAACAAAAAACAAAAAAAACCTTGCTGTGTTTGCTGCACTCTCATACTTTGATTTCCCTCATGGAGCTTGGTTCAGACTGAGAATGGAGCCTGACCATCTCTTCTCGGCCTTATTCCAAATTGAATGGATTCACCTCAGCATTCTTTATCTTTGATGCCCTATTAAAATTCTTCTCAGTTAGATGATCTTTCCAACAGCTTCTACTCTCAACTCCAGGGCATGGTGGTGGCTGCTGCCTGGCTCTCCATGATTGGCACATCTGGGGAAAGGATGCAGACTCACCATGGCTGATGGGTTTGTCTGCCTCTCTCGTTCTCGCCTAATCTCACTCTCGATGGATTCACGGATGGCCAGCTTGCAAGCACGCTGGCAAATCTCTGTCAGGTCAGCTCCAGAGAAGCCATTAGTCATTTTAGCCAGGAACTCCAAGTCCACATCCTAAAAGCAGCAGCAGAGGTACCTTAGCATTTAGCCTCTCCTCTCGAGATACGCAGATCTTTGGGCTACCCGAGCACTCCCAACTACAGTTTGCCCCTTCTTTGGCCACCCCATTTTATTCCTGATTCTAGATTATCTTGATATCCTCAAAAATTCTACCTTCCCTTTAGACCAACCCTAACCCCAGTGGAATCTTGTCCAGAAACTAAAGAGCACTCCGTACCAGCCTGAGGACTCATGCAAGTCTCCCACAGCCCATGATCTTGCACCTGCCTTGGCAACTGGGGACTTGCGCAGGTTAGCCTTGAGGATGGCAACACGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATTTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCTACAAAAAATAAAAAATTAGCCAGATGTGGTGACGCATGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGAATTGCTTAAGCCCAGGTTTCAAGGTTACAGTGAGCCATGACTGTACCACTGCCCTCCAACCTGGGCAACAGAGCCAGACCCTGTCTCAAGAGAGAGAGAGAGAAAAAAAAAATAACACTAGGTCTCTCAGACCTCAGAAAGAAAATCAAGTGACTTACTGTGCAGTTGAGCAGCCAGCACTAAGAATATTTCAACCCTCTTAAAGAAAAACAGCCTCTATTCCTTGCCCTCAGGCAAATCAATACATAGTTCAGCCTATTGTAGCTCACCTTGTCAAAGATTTCTCTGACATTGGCCTCAGACTCCCCAAACCACATGGTGAGCAGCTCAGGACCCTTGATGGAGATGAAGTTGGCCTGGCATTCATTAGCAATGGCTTTGGCCAACAAAGTTTTCCCACAGCCAGGAGGTCCATAGAACAGAACTCCCTTGGAAGGTGTCATGCCAAACTTCAGGAATTTGTCTGGGTGCTCCACAGGATACTAGGAGGAAAAGGAAAGAGGGTTCAAGGCTACCTCCACATTTTGAAAGAAACCTAACTAAACAGAAGCATCCCCTCCATTATTTCATGGTGTACCCAATGGTATCAGATCCAGGTTCTCTAGAAGAAGACTCCTTAGTGCCTCAAACCTAAGAACAGTAGGTTCCTAAGTCGTGCTCTCACAACTCTTGCAGCAAATGTGTTGACACCCTGAGATCACCCAGATCAATTACAATGTACTGAGACAGTGACTCACCCTGGACCAAGTTGCCCTACCTGGACCAGCTCCTGTAGCTCACGTTTGACATCCTCTAGGCCCCCGATGTCTTCCCAGGTTACCTGTGGCACCTCTACCACGGTTTCCCGCAGTGCTGATGGGTTACTCTGGCTCAAGGCCCACTAGAAAAGGAGGGAAAACTGGGGATGAGACTTATCAAGGGAGGGGTCAAAGCACGTATGTGTGTACCTGAGGCACGGGTGTGGTCCTTACCCGGAAGTCATCCATAGTAACTGCTAGAGAGTTCATGACCTCGGCATCAATGGTCTCATCCTCTAGGTCAATGAGATCCATCTTCTTGCGGATGGCTTGCAGAGCAGCCTCTGAGCACAGGGCTGCTAAGTCAGCACCCACATGCCCGTGAGTCTCATTGGCTACCTGCAGAGAAAGATCTACTTACTATGCTGCCTCAAAGACCCAGCTGCTGCAGGAGGCTCAGAGACAATAGAATCCTTCCCCTGACTGCTATCCCTGGGTCCTCTCATTTCCTTGAATATATACTATCAATACCTTTATGGGCTGGGTTTTAAGTACTTAATTCTGGACTTGGGACCTAGAAATAAGGCTGCTCCAACAATTCTGATTTACTCTAAATGCAGCGTCAACTATGAAAAATGCCAACTCCCATTTCCTGGATTCAATCTCAGATTACTTCCTTTCCCCTGTCCAGAAATCAAAACCCATCTCCTCACATCTTAACCTTATGTCTCTAGCCAGTTCCCAGCAACTGCCTAGAGACACTGTAACGCCTGGTCAGCCATCATCATCACTTCACCTGTTCCAGGTCCACATCATCTGCCAGCTTCATGTTCTTGGTATGGATCTGAAGAATCTCTAAGCGTCCTGTAGCATCAGGAATTCCAATATCTACCTCCCTGTCAAAGCGACCTGTGGGACAGTACACAAACATAAACAGGGCTCATCTCTAGTCCAGAGGTAAGAGACAGGCCTAGGGTGACCAACCATCTC
|
Task1_train_12771
|
Given a variant located on Chromosome 9 and affecting VCP (valosin containing protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; not provided
|
CGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCTACAAAAAATAAAAAATTAGCCAGATGTGGTGACGCATGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGAATTGCTTAAGCCCAGGTTTCAAGGTTACAGTGAGCCATGACTGTACCACTGCCCTCCAACCTGGGCAACAGAGCCAGACCCTGTCTCAAGAGAGAGAGAGAGAAAAAAAAAATAACACTAGGTCTCTCAGACCTCAGAAAGAAAATCAAGTGACTTACTGTGCAGTTGAGCAGCCAGCACTAAGAATATTTCAACCCTCTTAAAGAAAAACAGCCTCTATTCCTTGCCCTCAGGCAAATCAATACATAGTTCAGCCTATTGTAGCTCACCTTGTCAAAGATTTCTCTGACATTGGCCTCAGACTCCCCAAACCACATGGTGAGCAGCTCAGGACCCTTGATGGAGATGAAGTTGGCCTGGCATTCATTAGCAATGGCTTTGGCCAACAAAGTTTTCCCACAGCCAGGAGGTCCATAGAACAGAACTCCCTTGGAAGGTGTCATGCCAAACTTCAGGAATTTGTCTGGGTGCTCCACAGGATACTAGGAGGAAAAGGAAAGAGGGTTCAAGGCTACCTCCACATTTTGAAAGAAACCTAACTAAACAGAAGCATCCCCTCCATTATTTCATGGTGTACCCAATGGTATCAGATCCAGGTTCTCTAGAAGAAGACTCCTTAGTGCCTCAAACCTAAGAACAGTAGGTTCCTAAGTCGTGCTCTCACAACTCTTGCAGCAAATGTGTTGACACCCTGAGATCACCCAGATCAATTACAATGTACTGAGACAGTGACTCACCCTGGACCAAGTTGCCCTACCTGGACCAGCTCCTGTAGCTCACGTTTGACATCCTCTAGGCCCCCGATGTCTTCCCAGGTTACCTGTGGCACCTCTACCACGGTTTCCCGCAGTGCTGATGGGTTACTCTGGCTCAAGGCCCACTAGAAAAGGAGGGAAAACTGGGGATGAGACTTATCAAGGGAGGGGTCAAAGCACGTATGTGTGTACCTGAGGCACGGGTGTGGTCCTTACCCGGAAGTCATCCATAGTAACTGCTAGAGAGTTCATGACCTCGGCATCAATGGTCTCATCCTCTAGGTCAATGAGATCCATCTTCTTGCGGATGGCTTGCAGAGCAGCCTCTGAGCACAGGGCTGCTAAGTCAGCACCCACATGCCCGTGAGTCTCATTGGCTACCTGCAGAGAAAGATCTACTTACTATGCTGCCTCAAAGACCCAGCTGCTGCAGGAGGCTCAGAGACAATAGAATCCTTCCCCTGACTGCTATCCCTGGGTCCTCTCATTTCCTTGAATATATACTATCAATACCTTTATGGGCTGGGTTTTAAGTACTTAATTCTGGACTTGGGACCTAGAAATAAGGCTGCTCCAACAATTCTGATTTACTCTAAATGCAGCGTCAACTATGAAAAATGCCAACTCCCATTTCCTGGATTCAATCTCAGATTACTTCCTTTCCCCTGTCCAGAAATCAAAACCCATCTCCTCACATCTTAACCTTATGTCTCTAGCCAGTTCCCAGCAACTGCCTAGAGACACTGTAACGCCTGGTCAGCCATCATCATCACTTCACCTGTTCCAGGTCCACATCATCTGCCAGCTTCATGTTCTTGGTATGGATCTGAAGAATCTCTAAGCGTCCTGTAGCATCAGGAATTCCAATATCTACCTCCCTGTCAAAGCGACCTGTGGGACAGTACACAAACATAAACAGGGCTCATCTCTAGTCCAGAGGTAAGAGACAGGCCTAGGGTGACCAACCATCTCAGCCAGCACAGGATTGTCCTAATGCCAGCACTAAAAAAGTCTCAAGCTCTGGGAAACCTTTCAGTCTCAGGAAAACCAGGGTGGTTGGTCACTCTAGACAGGACGTAGGGTAAAGGAAAAAGACCCCTGGACCCAATCACTGTGAAGGGCTTCAAGAGGATTAGGTGACTTAGATGAAGGAGAGAAGTAGGACCTAAGCAAGGACGGGGTCAAAAGTATCTGGAGTCCTTACCAAATCGCCGTAGAGCTGGGTCAATGCTGTTGGGTCTGTTGGTTGCTGCCATAACAATCACATGTGCCCTCTGCTTTAGGCCATCCATGAGGGTCAACAACTGTGATACAATGCGCCGCTCCACCTCGCCATGAGTCTGCCAGAACAGGATGTCTGGTCAGAAGTGAAGTCAGGGCCTTTCAACCCCCCTCTATCCCCTCAGGTAAGCTCCTACTTTCTCTCTTTTGGGAGCGATGGCATCTAGCTCATCAATGAAGATGATGGCAGGAGCATTCTTCTCAGCCTCCTCAAAGGCTTTACGAAGGTTGCTCTCAGACTCACCAGCCAATTTGCTCATGATCTCAGGACCTGAAAGGATACAGAATGGAGACAATAACAAAATGATAGTCTTTCCCAATTCCTCCCAAAAATCAGTTATCTTGCTTGTTTGGCCCAGAGACAGGTCCTGGGTGAGAAGGTGGTAACCTCTGCCTACTTCTCACATCCTCTACCAGCCATTATCCCAGGACAGCCACCAGGCAAGGCTGGAGAGAAGCCCAGGGACTCACTATACTCTTCTCACAGTTGAACTGTAAAGGTGACAGCAAATGCTCTAGGACCTCTGGCTAGAGCAAGAGAGATGGCACACCAGATGGCACACCACTAAACAGCATTCTCCAAGAGCCAGTGATCAAAGTTCATTTGCCCCAAACCCTCTCAAATCACTAACCATTCACCCTTTGATTTCTCATTCTAGCTTGCTCCCGCTCTGCAGTCTGTCCACAATCTTTCTCAAAGGGGGCAGGACAGGGAGCACCAATGTAAAATATCTTCCCTTTATTGCTCTTCTGTCTGTAACATACCCCAGCATAAGAAATATGCTATAAACATGAAGGAGGGCATGGGTGCAAAAAGGATGTGTTCATAAGTGCTCCAGCTCATAAGCCCAGTTCAAAATTGGGTCTAGCTAGACATAAGATGAACCAAATATCTCACCATTGATCAAGAAGAAGAAGGCTCCAGTCTCATTTGCTACAGCTCGAGCAATCAGGGTCTTTCCTGTTCCAGGAGGTCCGTAAAGCAGGATTCCTCTAGGAGGCTGTGGACCAATGCAGAGTGTGATTAGGTTCCCACCTTCTCCCAAACCCTAAAATGGCTTGACTAGCGCTCCAGAGAGGGTGAGAATCAGGCTTCAACCCTGACAATATTAAGAATAAGCCCTCCGCAGTAAATGCTAAGAAGACAATTACTTTAGGCCACACTCATTTCTATTACTAGCAGGGAAAATACTGCTAGAAAGTGGGCAACATTTATGATTGCAACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCC
|
CGGGACTTCTCATCAGGAAGTGGGATGTAGATGAGCTGATCAAGACGGCCAGGTCTGAGGATGGCAGGATCAATGATGTCAGGCCGGTTGGTAGCGCCAATGATGAACACATTTTTTTTTGTGGACATGCCATCCATTTCTGTCAGGATCTGGTTGATGACTCGGTCAGCAGCCCCACCACCATCTCCAATGTTACCTCCACGAGCCTTGGCAATCGAATCCAGCTCATCAAAGAATAGCACACAGGGGGCAGCTTGGCGGGCCTGTAGGAGGAATGGATTGATTCAAGCACTAACAAAACTAGATGTCTCTAGGCAAACGTGGTGGCTCACACCTGTATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGGCCAGAAATCCGAAACCAGCATGGGCAACATACTGAGACTTTGTCTCTACAAAAAATAAAAAATTAGCCAGATGTGGTGACGCATGCCTATAGTCCCAGCTACTCAGGAGGCTGAAGTAGGAGAATTGCTTAAGCCCAGGTTTCAAGGTTACAGTGAGCCATGACTGTACCACTGCCCTCCAACCTGGGCAACAGAGCCAGACCCTGTCTCAAGAGAGAGAGAGAGAAAAAAAAAATAACACTAGGTCTCTCAGACCTCAGAAAGAAAATCAAGTGACTTACTGTGCAGTTGAGCAGCCAGCACTAAGAATATTTCAACCCTCTTAAAGAAAAACAGCCTCTATTCCTTGCCCTCAGGCAAATCAATACATAGTTCAGCCTATTGTAGCTCACCTTGTCAAAGATTTCTCTGACATTGGCCTCAGACTCCCCAAACCACATGGTGAGCAGCTCAGGACCCTTGATGGAGATGAAGTTGGCCTGGCATTCATTAGCAATGGCTTTGGCCAACAAAGTTTTCCCACAGCCAGGAGGTCCATAGAACAGAACTCCCTTGGAAGGTGTCATGCCAAACTTCAGGAATTTGTCTGGGTGCTCCACAGGATACTAGGAGGAAAAGGAAAGAGGGTTCAAGGCTACCTCCACATTTTGAAAGAAACCTAACTAAACAGAAGCATCCCCTCCATTATTTCATGGTGTACCCAATGGTATCAGATCCAGGTTCTCTAGAAGAAGACTCCTTAGTGCCTCAAACCTAAGAACAGTAGGTTCCTAAGTCGTGCTCTCACAACTCTTGCAGCAAATGTGTTGACACCCTGAGATCACCCAGATCAATTACAATGTACTGAGACAGTGACTCACCCTGGACCAAGTTGCCCTACCTGGACCAGCTCCTGTAGCTCACGTTTGACATCCTCTAGGCCCCCGATGTCTTCCCAGGTTACCTGTGGCACCTCTACCACGGTTTCCCGCAGTGCTGATGGGTTACTCTGGCTCAAGGCCCACTAGAAAAGGAGGGAAAACTGGGGATGAGACTTATCAAGGGAGGGGTCAAAGCACGTATGTGTGTACCTGAGGCACGGGTGTGGTCCTTACCCGGAAGTCATCCATAGTAACTGCTAGAGAGTTCATGACCTCGGCATCAATGGTCTCATCCTCTAGGTCAATGAGATCCATCTTCTTGCGGATGGCTTGCAGAGCAGCCTCTGAGCACAGGGCTGCTAAGTCAGCACCCACATGCCCGTGAGTCTCATTGGCTACCTGCAGAGAAAGATCTACTTACTATGCTGCCTCAAAGACCCAGCTGCTGCAGGAGGCTCAGAGACAATAGAATCCTTCCCCTGACTGCTATCCCTGGGTCCTCTCATTTCCTTGAATATATACTATCAATACCTTTATGGGCTGGGTTTTAAGTACTTAATTCTGGACTTGGGACCTAGAAATAAGGCTGCTCCAACAATTCTGATTTACTCTAAATGCAGCGTCAACTATGAAAAATGCCAACTCCCATTTCCTGGATTCAATCTCAGATTACTTCCTTTCCCCTGTCCAGAAATCAAAACCCATCTCCTCACATCTTAACCTTATGTCTCTAGCCAGTTCCCAGCAACTGCCTAGAGACACTGTAACGCCTGGTCAGCCATCATCATCACTTCACCTGTTCCAGGCCCACATCATCTGCCAGCTTCATGTTCTTGGTATGGATCTGAAGAATCTCTAAGCGTCCTGTAGCATCAGGAATTCCAATATCTACCTCCCTGTCAAAGCGACCTGTGGGACAGTACACAAACATAAACAGGGCTCATCTCTAGTCCAGAGGTAAGAGACAGGCCTAGGGTGACCAACCATCTCAGCCAGCACAGGATTGTCCTAATGCCAGCACTAAAAAAGTCTCAAGCTCTGGGAAACCTTTCAGTCTCAGGAAAACCAGGGTGGTTGGTCACTCTAGACAGGACGTAGGGTAAAGGAAAAAGACCCCTGGACCCAATCACTGTGAAGGGCTTCAAGAGGATTAGGTGACTTAGATGAAGGAGAGAAGTAGGACCTAAGCAAGGACGGGGTCAAAAGTATCTGGAGTCCTTACCAAATCGCCGTAGAGCTGGGTCAATGCTGTTGGGTCTGTTGGTTGCTGCCATAACAATCACATGTGCCCTCTGCTTTAGGCCATCCATGAGGGTCAACAACTGTGATACAATGCGCCGCTCCACCTCGCCATGAGTCTGCCAGAACAGGATGTCTGGTCAGAAGTGAAGTCAGGGCCTTTCAACCCCCCTCTATCCCCTCAGGTAAGCTCCTACTTTCTCTCTTTTGGGAGCGATGGCATCTAGCTCATCAATGAAGATGATGGCAGGAGCATTCTTCTCAGCCTCCTCAAAGGCTTTACGAAGGTTGCTCTCAGACTCACCAGCCAATTTGCTCATGATCTCAGGACCTGAAAGGATACAGAATGGAGACAATAACAAAATGATAGTCTTTCCCAATTCCTCCCAAAAATCAGTTATCTTGCTTGTTTGGCCCAGAGACAGGTCCTGGGTGAGAAGGTGGTAACCTCTGCCTACTTCTCACATCCTCTACCAGCCATTATCCCAGGACAGCCACCAGGCAAGGCTGGAGAGAAGCCCAGGGACTCACTATACTCTTCTCACAGTTGAACTGTAAAGGTGACAGCAAATGCTCTAGGACCTCTGGCTAGAGCAAGAGAGATGGCACACCAGATGGCACACCACTAAACAGCATTCTCCAAGAGCCAGTGATCAAAGTTCATTTGCCCCAAACCCTCTCAAATCACTAACCATTCACCCTTTGATTTCTCATTCTAGCTTGCTCCCGCTCTGCAGTCTGTCCACAATCTTTCTCAAAGGGGGCAGGACAGGGAGCACCAATGTAAAATATCTTCCCTTTATTGCTCTTCTGTCTGTAACATACCCCAGCATAAGAAATATGCTATAAACATGAAGGAGGGCATGGGTGCAAAAAGGATGTGTTCATAAGTGCTCCAGCTCATAAGCCCAGTTCAAAATTGGGTCTAGCTAGACATAAGATGAACCAAATATCTCACCATTGATCAAGAAGAAGAAGGCTCCAGTCTCATTTGCTACAGCTCGAGCAATCAGGGTCTTTCCTGTTCCAGGAGGTCCGTAAAGCAGGATTCCTCTAGGAGGCTGTGGACCAATGCAGAGTGTGATTAGGTTCCCACCTTCTCCCAAACCCTAAAATGGCTTGACTAGCGCTCCAGAGAGGGTGAGAATCAGGCTTCAACCCTGACAATATTAAGAATAAGCCCTCCGCAGTAAATGCTAAGAAGACAATTACTTTAGGCCACACTCATTTCTATTACTAGCAGGGAAAATACTGCTAGAAAGTGGGCAACATTTATGATTGCAACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCC
|
Task1_train_12772
|
This is a variant in VCP (valosin containing protein), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
CGCTCCACCTCGCCATGAGTCTGCCAGAACAGGATGTCTGGTCAGAAGTGAAGTCAGGGCCTTTCAACCCCCCTCTATCCCCTCAGGTAAGCTCCTACTTTCTCTCTTTTGGGAGCGATGGCATCTAGCTCATCAATGAAGATGATGGCAGGAGCATTCTTCTCAGCCTCCTCAAAGGCTTTACGAAGGTTGCTCTCAGACTCACCAGCCAATTTGCTCATGATCTCAGGACCTGAAAGGATACAGAATGGAGACAATAACAAAATGATAGTCTTTCCCAATTCCTCCCAAAAATCAGTTATCTTGCTTGTTTGGCCCAGAGACAGGTCCTGGGTGAGAAGGTGGTAACCTCTGCCTACTTCTCACATCCTCTACCAGCCATTATCCCAGGACAGCCACCAGGCAAGGCTGGAGAGAAGCCCAGGGACTCACTATACTCTTCTCACAGTTGAACTGTAAAGGTGACAGCAAATGCTCTAGGACCTCTGGCTAGAGCAAGAGAGATGGCACACCAGATGGCACACCACTAAACAGCATTCTCCAAGAGCCAGTGATCAAAGTTCATTTGCCCCAAACCCTCTCAAATCACTAACCATTCACCCTTTGATTTCTCATTCTAGCTTGCTCCCGCTCTGCAGTCTGTCCACAATCTTTCTCAAAGGGGGCAGGACAGGGAGCACCAATGTAAAATATCTTCCCTTTATTGCTCTTCTGTCTGTAACATACCCCAGCATAAGAAATATGCTATAAACATGAAGGAGGGCATGGGTGCAAAAAGGATGTGTTCATAAGTGCTCCAGCTCATAAGCCCAGTTCAAAATTGGGTCTAGCTAGACATAAGATGAACCAAATATCTCACCATTGATCAAGAAGAAGAAGGCTCCAGTCTCATTTGCTACAGCTCGAGCAATCAGGGTCTTTCCTGTTCCAGGAGGTCCGTAAAGCAGGATTCCTCTAGGAGGCTGTGGACCAATGCAGAGTGTGATTAGGTTCCCACCTTCTCCCAAACCCTAAAATGGCTTGACTAGCGCTCCAGAGAGGGTGAGAATCAGGCTTCAACCCTGACAATATTAAGAATAAGCCCTCCGCAGTAAATGCTAAGAAGACAATTACTTTAGGCCACACTCATTTCTATTACTAGCAGGGAAAATACTGCTAGAAAGTGGGCAACATTTATGATTGCAACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTT
|
CGCTCCACCTCGCCATGAGTCTGCCAGAACAGGATGTCTGGTCAGAAGTGAAGTCAGGGCCTTTCAACCCCCCTCTATCCCCTCAGGTAAGCTCCTACTTTCTCTCTTTTGGGAGCGATGGCATCTAGCTCATCAATGAAGATGATGGCAGGAGCATTCTTCTCAGCCTCCTCAAAGGCTTTACGAAGGTTGCTCTCAGACTCACCAGCCAATTTGCTCATGATCTCAGGACCTGAAAGGATACAGAATGGAGACAATAACAAAATGATAGTCTTTCCCAATTCCTCCCAAAAATCAGTTATCTTGCTTGTTTGGCCCAGAGACAGGTCCTGGGTGAGAAGGTGGTAACCTCTGCCTACTTCTCACATCCTCTACCAGCCATTATCCCAGGACAGCCACCAGGCAAGGCTGGAGAGAAGCCCAGGGACTCACTATACTCTTCTCACAGTTGAACTGTAAAGGTGACAGCAAATGCTCTAGGACCTCTGGCTAGAGCAAGAGAGATGGCACACCAGATGGCACACCACTAAACAGCATTCTCCAAGAGCCAGTGATCAAAGTTCATTTGCCCCAAACCCTCTCAAATCACTAACCATTCACCCTTTGATTTCTCATTCTAGCTTGCTCCCGCTCTGCAGTCTGTCCACAATCTTTCTCAAAGGGGGCAGGACAGGGAGCACCAATGTAAAATATCTTCCCTTTATTGCTCTTCTGTCTGTAACATACCCCAGCATAAGAAATATGCTATAAACATGAAGGAGGGCATGGGTGCAAAAAGGATGTGTTCATAAGTGCTCCAGCTCATAAGCCCAGTTCAAAATTGGGTCTAGCTAGACATAAGATGAACCAAATATCTCACCATTGATCAAGAAGAAGAAGGCTCCAGTCTCATTTGCTACAGCTCGAGCAATCAGGGTCTTTCCTGTTCCAGGAGGTCCGTAAAGCAGGATTCCTCTAGGAGGCTGTGGACCAATGCAGAGTGTGATTAGGTTCCCACCTTCTCCCAAACCCTAAAATGGCTTGACTAGCGCTCCAGAGAGGGTGAGAATCAGGCTTCAACCCTGACAATATTAAGAATAAGCCCTCCGCAGTAAATGCTAAGAAGACAATTACTTTAGGCCACACTCATTTCTATTACTAGCAGGGAAAATACTGCTAGAAAGTGGGCAACATTTATGATTGCAACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTTCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTT
|
Task1_train_12773
|
An alteration has been detected in VCP (valosin containing protein) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCATGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
Task1_train_12774
|
A variant was discovered in gene VCP (valosin containing protein), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCATGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
Task1_train_12775
|
A mutation in VCP (valosin containing protein), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCATGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
Task1_train_12776
|
This genomic variant is located on Chromosome 9, within the VCP (valosin containing protein) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
ACTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCATGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGA
|
Task1_train_12777
|
Gene VCP (valosin containing protein) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
CTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAG
|
CTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACCCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAG
|
Task1_train_12778
|
A genomic change on Chromosome 9 affects VCP (valosin containing protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Amyotrophic lateral sclerosis type 6
|
CTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAG
|
CTTGCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACTCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAG
|
Task1_train_12779
|
A variant was discovered in gene VCP (valosin containing protein), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
GCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTA
|
GCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCACCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTA
|
Task1_train_12780
|
A mutation found in VCP (valosin containing protein) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
GCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTA
|
GCATAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCACCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTA
|
Task1_train_12781
|
A sequence alteration has been identified in VCP (valosin containing protein) on Chromosome 9. Is it disease-inducing or harmless?
|
Pathogenic; not provided
|
TAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCC
|
TAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCGACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCC
|
Task1_train_12782
|
A mutation on Chromosome 9 affecting VCP (valosin containing protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
TAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCC
|
TAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCTACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCC
|
Task1_train_12783
|
Given a variant located on Chromosome 9 and affecting VCP (valosin containing protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
TAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCC
|
TAGGAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCTACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCC
|
Task1_train_12784
|
Chromosome 9 houses a mutation in gene VCP (valosin containing protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
GAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAG
|
GAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACTACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAG
|
Task1_train_12785
|
A genomic change on Chromosome 9 affects VCP (valosin containing protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
GAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAG
|
GAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACTACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAG
|
Task1_train_12786
|
The variant affects gene VCP (valosin containing protein), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
GAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAG
|
GAGACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACTACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAG
|
Task1_train_12787
|
A mutation on Chromosome 9 affecting VCP (valosin containing protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCATGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
Task1_train_12788
|
Consider a variant on Chromosome 9 in gene VCP (valosin containing protein). Determine its clinical classification and disease relevance.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCATGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
Task1_train_12789
|
Gene VCP (valosin containing protein) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCATGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
Task1_train_12790
|
This variant affects the gene VCP (valosin containing protein) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Inborn genetic diseases
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
GACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCATGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGT
|
Task1_train_12791
|
Gene VCP (valosin containing protein) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
ACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTC
|
ACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACTGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTC
|
Task1_train_12792
|
This variant affects gene VCP (valosin containing protein) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
ACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTC
|
ACTAAGGGCAGAGAAACTGTAGTCCAAATGCGTTTGAAGATACATGACTAGGGAAAGGCAAGAGGCCATTACACTAAGGGCTCAATTTTAGACAGACCAAGGGCCAAAGACTAGCTAAGCCATTTAAGAGAGCAGGGTCTATTTTCTTCATTGCCAGAGGATCACTCACTCCAGTAATCATGCCCTCCAGAATTTATCACACTGGAATGCTGTTCCTTACAATCATCATTTTTCTTCTTCAACACTACCCTTTCTATGGCCTCATCCACAAGCAGAACATGTAAACTGTCCACATAGAAAATGAAATTATTTGTGTGCCACCCACTAGGAAAATGAGTAACTTCATCTTCAGTGTGTTCCATGGAAACACTTTCCCACTAGGAAAAGATTGAGAAGCTACACTCTAGACCAATAGTTCTCAAATGTTTTAGACTCAGAACCCTTTAACACTCTGAAAATTTCCTTAACTTCCTTACTTCTACTGGGTGACATTGCTCTAGACAGGCTGGCAAACTATGGTGAGATTTGTTTTTACAGGGTCCATTGATACAAGAATGGCTTTTATATTCTAAGAGTTGTAAAGAAAAACCCATATATATATGTGTGTGTGTTTTGTGCGCACACGCACACAACAGACAATTTGATTAGCCTACTCTGGTTTTAGACCATCAGCTCTAATGAATTTAGAGCCTTAGGTAAACTAAAGGATACGTTATTGCCCCTCTAATCCAAGGCAATAATGAAAGCCATGCATGAAAACAGTCCCAGGATTAGACATTGGGACAGGATTAGACATTGGCACCACTTTAGACTTGATTCCAGAGCCCAGGATGCTCACCTTCACACCAATTGCCTTAAAGAGGGCAGGATGTCTCAGGGGCAGTTCCACCATCTCCTTTATCTGAGCTAGCTGCTTCCTGCAGCCACCAATGTCATCATACCCTACTTCATTCAAGGACTCTTCCTCATCCTGAATATGGAGGAGATAAAGAAAGGAGAAGGCAAGAATATTATATCAGCAAAAGCTGAGTTTCTCTAAATCATTCCACTACCTAGTGTGCAAAAACCTACCGTATAAGAAGATTCTCAACCCGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGAGGAATGCTTGAGTCCAGGAGTTCCTGGGCAATACAGCAAGACTCCATCTCATTAAAAATTAAATTAAATTTAAAAAAGATTCTCCTCTAAAGGGATCCGGCCTCAAAGAACAACTACAAAAATCCCAAGGCAAAGATTTCTAGCACAGTCCTTGCCTCTCACATTACTCGTAGTCTTACTGAGAAGGGGTCTCTAAAATCTGAAGCTGGAAACCCTGGGAATGGGCAGAGGCCTGAAGCCACCATCAGCTTTACTTCAAAAATGATTTCAATCACTTATATATTTTGGGTTCAGTCTAGTTTTTTGAAATTCCTGGCATTAGGTAAATCCAAGAAACAATTAGGCCCAGAAATGAATAGCTGGCAGGTTTCTCATCCCTGAAAGATGGTTAGTTCTCCAAAGAACACCCAGTCTTTTTCTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGACTCCTGGGTTCAACCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACACCTGACCTCAAGTGATCTGCCCATCTCAGTCTCCCAAAGTACTGGGATTACAGGTGTCAGCCACCGCAGCCGGCCGAGCACCCAGTCCTGACAGTTACCACATGATGCCACACTGAGTAATCATAAAATCGGATACTGGAATCAGGGAGAAAACTCACCTCTCGTTTGATAGGCTCCCCTTCGCAGTGGATCACTGTGTCTGGAGCAACAATGCAATAAGGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCACGCATCCCACCACTGACAAGAAAAATGTCTCCTGCGAGAGCAAACAGTACAAGCACAGTTAGAGGTGTCAACTACAAGACAAAGTGAGAACTCATCAGACCCTGGGGTCAAAATGCCAAGCTCATTAGATAGTGCCCTTCATTAGATATTGCCCTACCTCTCCCCAACTCCACCCCACCTGTCTTAATAAGCAGCAGGCAAGATGAGAAAGGTAAACTGTGAAGAGTCCCTCTGACAAGAGGTCAGTGAACAAAACCTGACATGTCAGAAGCCCATCAAGTTCTGACTTCTGCCATATAGGTAGCCCAAGTTTTCACTACAACCACCAATGGTAGAACTGTGCACTCTGGACCCTGACCCAGCCAAAATGGACCACTTTCTCCTTCAGAGATCCATAAAGATAGCTTACTCTCCTGGAACAGAGAAGGGGAGAGATGGAGCAAAGGAAGGATGGAGGAAAAAAAGAGGGTAAGACATATGAATATGTGTGCAGGGTTTGCATGTGTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTC
|
Task1_train_12793
|
A mutation on Chromosome 9 affecting VCP (valosin containing protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
GTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACA
|
GTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCTCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACA
|
Task1_train_12794
|
A change on Chromosome 9 affects gene VCP (valosin containing protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
GTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACA
|
GTGTGTATACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCTCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACA
|
Task1_train_12795
|
Given a variant located on Chromosome 9 and affecting VCP (valosin containing protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
TACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAA
|
TACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCCTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAA
|
Task1_train_12796
|
Here is a variant affecting VCP (valosin containing protein) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
TACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAA
|
TACAAATATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCCTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAA
|
Task1_train_12797
|
This variant affects the gene VCP (valosin containing protein) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
|
TATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTA
|
TATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACAAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTA
|
Task1_train_12798
|
Consider a variant on Chromosome 9 in gene VCP (valosin containing protein). Determine its clinical classification and disease relevance.
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
TATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTA
|
TATATGAAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACAAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTA
|
Task1_train_12799
|
Chromosome 9 houses a mutation in gene VCP (valosin containing protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
AAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTTATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTATTCCCA
|
AAAATGAGTCTAGCGGCCGGGCACAGTGGCTCACCTGAGGTCAAGAGTTCGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCGCTCCAGCCTGGGGGACAGCGCGACACTCTGTCTCAAAAAAAAAAGAAAAGAAAATGAGACTAGGCTTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGATGGATCACTTGAGCCCAGCAGTTTGAGACCAGCCTGGGCATCATAGTGAGACCCTGTCTCTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGCAGTACTGTGGCCCAATCTTGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCCACGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCTCCCAAATTGCTGGGATTATAGGTGTGAGCCACGGTGCCCAGCTGACCCCATCTCTTAAAAAATGAATAAATAAATACAGGGGAAAAGCATAAAAGATTTAAAAAAAAAAAAAGAAAAAGAAAATGAGATAAAGATGTTCCAAGGTTTATTCCCTACAGTCAATAATCCTTAAGCTCAGAATTAGCTCTCACCTTTCCGGATGGGTCGATACGCTTCCAGGAAGTACGGCTTAAGGTATACCTCGAAGAGATTACCAGTAATGCCTTCCACTGTGTCATCAATGGGCAGCACATGGATACGTTTGCCGTACTTCACATCAGGGCATGGCTGGATGCTGAGGATGACAAGCAGACTCCATATTACCAACCACACTTCGGGCCCAAGCACTGGGTGTCCAAAAGGGCCTGGCACAGATAGCTGATAGTAAGTGAAAAAGAAAAGGCAGGATGGCTTTAGGCGAAGAGAGGAAGGAGAACAGGGTGGAAGTGAGGGCGAAGGAACAGCCCCACTCACTCCTAATCAGTGAGCCAAAATCAAGAGCCACACATTTAGAAACCCCACAAAGACATGCAGGGTCTTCAGGGAGATATCCAAGGATGATCCCCTTCTAGCTAATACTGGTGACCCAATATTACAAGGGAAGGTCTTAAGCTAACAATTGTCAGGGTCAGTGAAACAGAAGTGAAAAAAACAAAATTATCTCAGCCAGGTGGTCAGAACACCTTGAGGAAGTGACTAAGCACTCCCAAGAAGAAAGCTACATGAAACTTAGACTCCATTCAAAAGAATCAAAAGCCTGAGATGATCCTGGCCAGGTGATGGTTGGTTGGGTAGGAGTGGCTAGAGATGACTCCAAGATGGGGTAACCTCTTGCCTAAAATTATGCAAGAACAAGCAAAATCACTCACATTGAGAGCTATCCCAGGTCTGGCTCCAACTATTCCTCTCTCCCGGGTTAACTTAGGGGCTTAAAAGACCTGCTAGCAGCTCACCTTCCATGCCCATACCCCCACCTCATTCCAACCCCAACACAAGCCATCAATTAGACATACTAGTGAGAGTAGTGAGGAGATTATTTGGCATATACATACACACCCTCGAGTGGTATCCTAAGCCAGGATATAAGTATGATAAATTACACCTCTAGTAGGAAAAAATAAAGCCATCAAGAAAGTTACAGGAACGCCAATTTGTCTCAAGGGACCTGCAGAAATGGATTTTGAAGTCCCAGGGAGGCAGAACCAAAACCTAAAGACAACCCTGAAGCATAAGTCTTCCCATGACCAGGAGGCTTCCTGCATCGACAGGTGCCAAGAACTTGGTCCTGCCTGTAATACATGGGTCCTGCCTGTAATGCAGGCTATCTCTGGCCTCCCATCCCTGTGAAGCCAAAAACCCCACACACACCTGATGACATCCCCTAGGCGTACACGAAGGTAATTCCGAACAACTCTATTCATCCGAATCTTCTCATCAGAACAAGTATCATCAGAAAGGACGATGCAAACAGCTTCTCGTCTCTTCTTTCCTTTCAGCAACACTGTGTCACCTCGGAACAACTGCAATTCATCCATCTTGGGCTGAGGAAAGAAAGTTAAGGCCTTTGGGTCATTGGGCTGACGGGGAGTAAGCAGCAGCCCTGGAGATTGGGATTCCCAGTAAACCCCACTCTATCTGCAGTCACTGCAAGAAAAATGAGAAAAGAAACCTGGGAAAATCCCTCAAGTAAGTGCAGTAAGGAAAGACTAGTCTGTGGCCACAGCTTACCTGGGACAAGGACACCACACTGTTGTCCTCATTGATGGCTTCATCAACAATTAACCGATTGGGACGGTTCTTCTGTTTGAGAATGGCTGTTGATAGGTCATCACCTTTTGAACTAGAAGGAGGAAATGGAGTCAGTAGATACTCCTGCCCCAAGCGCCTCGCCAGTCTCTAAAACTCATACTTAGGAAAGAAACAGTGAATAGATGAAGCTGTCCCTAGACCAGAAAGCTCAGATGAAGGAAAGGCAGCCAAGGTCACGAGGAGCAGTATCTACCATACATATTACAATACCCATTCCAGCAGCTCCTGGTATTTTGAGCGTCAGTGTCCCAGCTATAAGGCCCCAAGTGAGTGATCCTGCCCCAGGGTCAGAAAATAATGGCCTAAGAAGAAGACATAATAGAAATGGAGGCTGAATAGTTGTTAGAGAAATAAAAATAGTCTTAGACTTACAGAAGAGTGGTTAAGAGCAGGAACTCTATAGTCAGACCCATTGGGTCTGAATTCCAATTATGCCACTGCTTAATTGTGATCTTGGGCAAGTTACCTAACCTCTGAACTTTGATGTCCTCCTCTATAAAAGAAGGAATATAATACTTATCTCAGAGGCTTATTGTCTTAAGGGAGATAATGAATGTAAAATGCTTAACATAATACCTGGCACATGGTATTAATGGTCACCATGATTAACAGTATAGAGTAAAGCATAAGCTAACTTTCCAGGGAATTAAGTAAGCCAGACAACCTCCCTTGAGGCTCAGGGAGGCCTTAAGTTCTACCAAGCAAGCCTGGGGACAACGAAGCAGAATCATTGGTGCTACCCTCCTTATAGGCTAAACCTACTGATGCCAGGGCATTCCATAGTACCAAAGGAATGCCAAGCATAAAGACCATCATATTTGGAAAAAACACTAACAGACATCAAACCGCCAGAAAGAGGCTCAAGGTCAAAAGGAACTTCACAGTAATATCTGCAAAAGTACACAATTCCATAAAGTTGGCTCAAAAAATCAAAACCAAGAAATGCTGAGACATGGGGCAAATCCAAATCCCTCTCACCCAAATCAAAGTCGACTGGGTCTACACTCAGTGTTATTTCCTAGAAGCTAGGATCATTCACCAGACAGTGACACCAACTTATTACCTAGCCCGTTTCCAGCTGTCACTTACTAGACTCAGCAAGCTCCCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGTCCAGGCTGGAATGCAATGCTGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTGCATTTTTACTAGAGATGGGGTTTCACCATGGTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACAGCACCCAGCGCTCTCTCTTTTTTAAGAGCGGCCTCGTGTTAGTAAGGCTCAGGAAAACATAAGCATTAACCAAAGTAGGAAGGCCAGACAATGAAGGAAGCAAAGAAAATAAATTTTTAAAACGAATTTCTTCATTCAACAAATTCATGAGTCTCTATTATGTACCAGGCATTGTTCTAAGGGCTGGGGATACTGAAGTCAACAAAACAAGACAAAATAGTATTCCCA
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.